A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674061



Internal ID2907148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20075969..20077637hg38UCSC Ensembl
chr13:20650109..20651777hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381669
hg191669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5566119, essv5841619, essv5665807, essv5479316, essv6414377, essv5917621, essv5622760, essv6530384, essv6476563, essv5487841, essv6440665, essv6200655, essv5953752, essv6368110, essv5655707, essv5444037, essv5888569, essv5442694, essv6586417, essv6256730, essv6221863, essv5479973, essv6249493, essv6045735, essv5965982, essv6278202, essv5900776, essv6513484, essv5783234, essv5630061, essv6486346, essv6081464, essv5782973, essv6201600, essv6585148, essv5752411, essv5560308, essv6527029, essv5545798, essv6261429, essv5661528, essv6404108, essv6016702, essv5425770, essv6061622, essv5400812, essv5862334, essv6490066, essv6555368, essv6436853, essv6296501, essv6524110, essv5949730, essv6594610
SamplesNA19248, NA18520, NA19321, NA18871, NA19437, NA18874, NA19469, NA18511, NA19223, HG01098, NA19449, NA19920, HG01350, NA18507, NA19257, NA19701, NA19474, NA19467, NA19463, NA18912, NA19390, HG00638, NA19444, HG01047, HG01124, NA19398, NA19908, NA20541, NA19256, NA20336, NA18916, NA19457, NA20341, NA19372, NA19374, NA19375, NA20126, NA19373, NA20334, NA20344, NA18502, NA18858, NA19347, NA19720, NA19376, NA18907, NA20289, NA19434, NA19818, NA19452, NA18924, NA19198, NA18519, NA19439
Known GenesZMYM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674061
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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