A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670614



Internal ID9936719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108748269..108755575hg38UCSC Ensembl
Outerchr3:108747898..108755945hg38UCSC Ensembl
Innerchr3:108467116..108474422hg19UCSC Ensembl
Outerchr3:108466745..108474792hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg388048
hg198048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6116565, essv5782085, essv6300139, essv5980137, essv5813675, essv6525115, essv5496047, essv6198496, essv5737347, essv5733569, essv5887027, essv6017540, essv6109507, essv5422554, essv5920475, essv6067641, essv5553142, essv5808475, essv6531314, essv6478979, essv6226783, essv6399863, essv5403069, essv5617296, essv5407432, essv6249955, essv6155508, essv6562919, essv5792390, essv5453232, essv6209117, essv6139729, essv5707681, essv5871728, essv6336923, essv5422689, essv6203584, essv5878018, essv5479377, essv5406805, essv6437816, essv5495048, essv6208068
SamplesHG00542, HG00442, HG00536, HG00524, HG00449, HG00693, HG00663, HG00589, HG00448, HG00590, HG00512, HG00422, HG00427, HG00419, HG00543, HG00443, HG00557, HG00428, HG00653, HG00701, HG00475, HG00436, HG00556, HG00583, HG00500, HG00531, HG00479, HG00684, HG00613, HG00525, HG00463, HG00476, HG00580, HG00418, HG00620, HG00672, HG00513, HG00478, HG00421, HG00656, HG00698, HG00472, HG00437
Known GenesRETNLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670614
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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