A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587116



Internal ID6627423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107860350..107862877hg38UCSC Ensembl
Innerchr1:107860350..107862877hg38UCSC Ensembl
Outerchr1:107859885..107863273hg38UCSC Ensembl
chr1:108402972..108405499hg19UCSC Ensembl
Innerchr1:108402972..108405499hg19UCSC Ensembl
Outerchr1:108402507..108405895hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382528
hg192528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10051643, essv10051592, essv10051554, essv10051602, essv10051535, essv10051580, essv10051529, essv10051628, essv10051556, essv10051570, essv10051581, essv10051618, essv10051567, essv10051582, essv10051630, essv10051640, essv10051564, essv10051579, essv10051612, essv10051549, essv10051623, essv10051633, essv10051614, essv10051593, essv10051557, essv10051551, essv10051566, essv10051569, essv10051547, essv10051608, essv10051634, essv10051594, essv10051607, essv10051563, essv10051644, essv10051531, essv10051537, essv10051638, essv10051624, essv10051550, essv10051559, essv10051561, essv10051568, essv10051595, essv10051596, essv10051538, essv10051543, essv10051625, essv10051627, essv10051574, essv10051558, essv10051600, essv10051631, essv10051528, essv10051577, essv10051539, essv10051584, essv10051548, essv10051646, essv10051571, essv10051591, essv10051613, essv10051573, essv10051606, essv10051601, essv10051619, essv10051605, essv10051572, essv10051611, essv10051629, essv10051552, essv10051639, essv10051544, essv10051534, essv10051545, essv10051546, essv10051621, essv10051555, essv10051617, essv10051610, essv10051562, essv10051586, essv10051565, essv10051583, essv10051587, essv10051533, essv10051616, essv10051578, essv10051637, essv10051536, essv10051532, essv10051615, essv10051632, essv10051575, essv10051597, essv10051626, essv10051553, essv10051603, essv10051530, essv10051590, essv10051541, essv10051609, essv10051620, essv10051622, essv10051642, essv10051542, essv10051585, essv10051576, essv10051647, essv10051598, essv10051560, essv10051645, essv10051540, essv10051588, essv10051589, essv10051599, essv10051604, essv10051635, essv10051636, essv10051641
SamplesHG01372, HG02725, HG00313, HG00734, HG00252, HG00536, NA20514, HG01241, NA20771, HG00304, HG02398, HG01250, HG00100, HG00705, NA21114, NA20510, NA20851, HG00596, NA12813, HG01082, NA21118, HG02733, HG03642, HG00173, HG00326, NA18608, HG01704, HG01762, HG01954, NA20539, HG00683, NA20588, HG00334, HG03951, HG04180, NA19678, HG01571, HG00177, HG02685, HG00319, HG01348, NA18745, NA19472, NA20803, HG03897, HG00266, HG01917, HG04238, HG01140, HG01756, HG01122, HG03717, NA18991, NA19083, HG00330, HG01360, NA11995, HG01707, HG01668, HG04063, NA18593, NA18982, HG00243, HG00357, NA18634, NA20589, HG00237, NA20769, HG01948, NA20587, HG02490, NA12716, NA18633, NA20536, NA21128, HG02285, NA20753, NA18558, HG03944, HG01369, HG02017, NA18749, NA18942, HG00116, NA19001, NA20797, NA21093, HG02265, HG01509, NA20813, HG03692, NA18974, HG00445, HG01162, HG03691, NA19794, HG02067, HG03745, HG04047, NA19403, NA12812, HG00378, HG03018, NA18602, NA12878, HG01945, NA20846, HG01464, NA21117, NA19717, HG00142, HG03718, HG00566, HG02522, HG00641, HG01489, HG04006, NA20538, HG03991, HG00136
Known GenesVAV3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587116
Frequency
Sample Size2504
Observed Gain0
Observed Loss120
Observed Complex0
Frequencyn/a


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