A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677992



Internal ID9597411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13012466..13017690hg38UCSC Ensembl
Outerchr10:13012309..13017843hg38UCSC Ensembl
Innerchr10:13054466..13059690hg19UCSC Ensembl
Outerchr10:13054309..13059843hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385535
hg195535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5603605, essv6390970, essv6425790, essv5506745, essv5515913, essv6375474
SamplesHG00158, HG00232, HG00116, HG00120, HG00138, HG00708
Known GenesCCDC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677992
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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