A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663730



Internal ID9583149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70010327..70016402hg38UCSC Ensembl
chr6:70720219..70726294hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386076
hg196076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6242988, essv5987039, essv5579072, essv5905942, essv6146320, essv5899343, essv6218812, essv6345899, essv5453190, essv6372437, essv5876584, essv6349965, essv5693582, essv6364231, essv5686767, essv5680947, essv5426256, essv6004441, essv5873397, essv6165031, essv6492967, essv6102164, essv5856238, essv6081809, essv6139215, essv6229744, essv5910103, essv6072306, essv6504303, essv6545756, essv6558005, essv5923141, essv6340101, essv5984450, essv6530480, essv5419135, essv6514874, essv6135205, essv5671123, essv5559857, essv5955406, essv6451918, essv5788192, essv6083737, essv5813812, essv5588301, essv5774321, essv5639435, essv5430076, essv5462982, essv5402967, essv6219701, essv6316555, essv6552886, essv6244711, essv6488939, essv5441278, essv5753591, essv6548413, essv6132452, essv6324272, essv6450246, essv5878277, essv6246240, essv5401133, essv6188936, essv6230566, essv6581260, essv6029512, essv5476358, essv5967954, essv5864878, essv5507793, essv6092921, essv5463917, essv6436348, essv5616767, essv5834673, essv5762106, essv5610700, essv5811559, essv5964778, essv5523823, essv5863556, essv6386544, essv6406702, essv5411383, essv5921192, essv6220491, essv5488440, essv6520332, essv5591539, essv6169202, essv6149078, essv6155504, essv6049814, essv5501256, essv5815684, essv6293263, essv5477630, essv6035580, essv5887098, essv5487389, essv6171351, essv6301243, essv6484879, essv5540991, essv6198899, essv6252167, essv5741032, essv6318092, essv6333180, essv5766385, essv5872765, essv5498266, essv6563179, essv5844440, essv5465305, essv6576858, essv6417763, essv6071299, essv6339067, essv6181788, essv6343696, essv6508127, essv5958620, essv6120448, essv5921620, essv6219577, essv6069098, essv6485063, essv5908777, essv5511905, essv6292215, essv6006663, essv5641376, essv5965705
SamplesHG00537, HG00536, HG00607, HG01440, HG00257, NA18534, NA18535, NA18630, HG00418, NA19437, HG01342, NA18612, HG00596, HG00565, NA19003, HG00261, HG00707, HG00614, HG00189, HG00577, HG00542, HG01174, HG00326, HG01491, NA18542, HG00553, HG01350, HG00139, NA18541, HG00122, NA18546, HG00683, HG00698, HG01188, HG00581, NA19685, HG00404, HG00280, HG00335, HG00578, HG00319, NA18557, NA18628, HG00247, HG00554, NA18632, HG00592, HG00635, NA19077, HG00543, NA19067, NA19085, HG01140, HG00593, HG00472, HG00583, HG01378, NA11994, NA19068, HG01048, HG01061, HG01183, HG00628, HG00533, HG00419, NA12400, HG00264, NA19681, HG00254, NA19056, HG00284, HG00403, NA18634, HG00237, NA19684, HG00662, NA18539, HG00436, HG00159, HG00124, HG00268, HG00640, HG00176, HG00239, NA19664, HG00672, NA19901, HG00282, HG00478, NA18961, HG00277, HG01080, NA18988, HG00329, HG01070, NA19074, HG01060, NA19462, HG00589, NA18543, HG00151, NA18597, HG00590, HG00595, HG01095, HG00443, NA18599, NA18567, NA19078, HG00611, NA18538, NA18867, NA19009, HG00663, NA18544, HG00311, NA18614, NA18548, NA19064, HG00123, HG00422, HG00708, HG01125, NA19346, HG00324, HG00625, HG00690, HG00183, HG00442, HG00473, HG00143, HG00704, NA19661, HG00126, HG01067, NA18553, HG01198
Known GenesCOL19A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663730
Frequency
Sample Size1151
Observed Gain0
Observed Loss137
Observed Complex0
Frequencyn/a


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