A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13697835



Internal ID3699651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12910191..12914490hg38UCSC Ensembl
Innerchr10:12910191..12914490hg38UCSC Ensembl
Outerchr10:12909691..12914990hg38UCSC Ensembl
chr10:12952191..12956490hg19UCSC Ensembl
Innerchr10:12952191..12956490hg19UCSC Ensembl
Outerchr10:12951691..12956990hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622390
Supporting Variants
SamplesHG01498
Known GenesCCDC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13697835
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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