A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661292



Internal ID9580711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168577257..168578699hg38UCSC Ensembl
Outerchr1:168577100..168578852hg38UCSC Ensembl
Innerchr1:168546495..168547937hg19UCSC Ensembl
Outerchr1:168546338..168548090hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6308435, essv6283196, essv6402070, essv6043198, essv6538998, essv6588597, essv6354785, essv6553149, essv6499336, essv6065217, essv5789611, essv6414878, essv6332575, essv5482671, essv6075607, essv5466664, essv5796035, essv6257947, essv5865387, essv6123129, essv5610453, essv5716073, essv6368735, essv6507514, essv5815573
SamplesHG00442, HG00257, NA18596, NA18530, NA18616, HG00693, HG00663, HG00589, NA18597, HG00689, NA18635, HG01354, HG00422, HG00443, HG00653, HG00475, NA18637, NA18630, HG00463, NA18632, HG00620, NA19078, NA18549, NA19074, HG00437
Known GenesXCL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661292
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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