A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13948136



Internal ID3223477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119717775..119722490hg38UCSC Ensembl
Innerchr10:119717793..119722473hg38UCSC Ensembl
Outerchr10:119717758..119722508hg38UCSC Ensembl
chr10:121477287..121482002hg19UCSC Ensembl
Innerchr10:121477305..121481985hg19UCSC Ensembl
Outerchr10:121477270..121482020hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg384716
hg194716
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624713
Supporting Variants
SamplesHG02836
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13948136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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