A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661464



Internal ID9580883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13014294..13019078hg38UCSC Ensembl
chr10:13056294..13061078hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg384785
hg194785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6159693, essv5619770, essv5795683, essv6094909, essv6170700, essv5497294, essv6104897
SamplesNA07056, HG01098, HG00158, HG00232, HG00116, HG00120, HG00138
Known GenesCCDC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661464
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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