A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664817



Internal ID9584236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46460931..46468587hg38UCSC Ensembl
Outerchr13:46460410..46468957hg38UCSC Ensembl
Innerchr13:47035066..47042722hg19UCSC Ensembl
Outerchr13:47034545..47043092hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg388548
hg198548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5481604, essv5753142, essv6195225, essv5721567, essv6364707, essv6153617, essv5448288, essv5642056, essv5722249, essv6479115, essv6462002, essv5684752, essv6548188, essv6079859, essv5598513, essv6102120, essv6416493, essv5844640, essv6387189, essv6518868, essv5827660, essv5823617, essv6231558, essv5508523, essv6504589, essv6532612, essv5750458, essv5997139, essv5689234, essv5639746, essv5794935, essv5894031, essv6038822, essv6226868, essv5929773, essv5894555, essv5988734, essv5779650, essv6201906, essv5964519, essv6114056, essv6024697, essv5851079, essv6294428, essv5986356, essv6597840, essv5829220, essv5430051, essv5490384, essv5874073, essv6004180, essv5437398, essv5934807, essv5980072, essv5961175, essv5771155, essv5940303, essv6490440, essv6187006, essv5420747, essv6156577, essv5999132, essv5674306, essv5772372, essv6196350, essv5917227, essv5805672, essv5860541, essv5875781, essv6453485, essv6542473, essv6158407, essv6368762, essv5416611, essv5733471, essv5955335, essv6312020, essv5480564, essv6228323, essv6545393
SamplesHG00613, HG00537, HG00607, HG00619, HG00705, HG00437, HG00500, HG00596, HG00565, HG00707, HG00463, HG00657, HG01488, HG00428, HG00475, HG00542, HG00683, HG00404, HG01461, HG00651, HG00557, HG00578, HG00479, HG00592, HG00543, HG01550, HG00556, HG01140, HG00593, HG01375, HG00583, HG00692, HG01495, HG00689, HG01124, HG00628, HG00533, HG00419, HG01253, HG00634, HG00403, HG00584, HG00620, HG01437, HG01465, HG00653, HG00629, HG00559, HG00560, HG00672, HG00513, HG00524, HG00534, HG01383, HG01149, HG00427, HG00590, HG00595, HG00611, HG00663, HG00580, HG01112, HG00448, HG00654, HG01366, HG00708, HG00566, HG01498, HG00625, HG00442, HG00473, HG01462, HG01489, HG00626, HG00684, HG00476, HG00671, HG00704, HG00531, HG01354
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664817
Frequency
Sample Size1151
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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