A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14769349



Internal ID4771165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:63518190..63954802hg38UCSC Ensembl
Innerchr13:63518690..63954302hg38UCSC Ensembl
Outerchr13:63517190..63955802hg38UCSC Ensembl
chr13:64092323..64528935hg19UCSC Ensembl
Innerchr13:64092823..64528435hg19UCSC Ensembl
Outerchr13:64091323..64529935hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38436613
hg19436613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632408
Supporting Variants
SamplesNA20765
Known GenesLINC00395, OR7E156P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14769349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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