A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661349



Internal ID9927454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110481728..110481892hg38UCSC Ensembl
Outerchr13:110481691..110481942hg38UCSC Ensembl
Innerchr13:111134075..111134239hg19UCSC Ensembl
Outerchr13:111134038..111134289hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6481685, essv6083842, essv6305237, essv5834095, essv6510634, essv5832901, essv5530085, essv6413143, essv6051142, essv5780639, essv6527126, essv6492305, essv6438148, essv6291068, essv5414488, essv6569067, essv5703674, essv6193252, essv5815663
SamplesHG01356, NA19703, NA19704, NA18870, NA19396, NA19379, NA20287, HG00705, HG01048, NA19663, NA18637, NA19395, NA19380, HG01357, NA19360, HG00614, HG00274, HG01377, NA12154
Known GenesCOL4A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661349
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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