A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14658376



Internal ID4023603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20678882..20683833hg38UCSC Ensembl
Innerchr13:20678913..20683803hg38UCSC Ensembl
Outerchr13:20678852..20683864hg38UCSC Ensembl
chr13:21253021..21257972hg19UCSC Ensembl
Innerchr13:21253052..21257942hg19UCSC Ensembl
Outerchr13:21252991..21258003hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg384952
hg194952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631435
Supporting Variants
SamplesHG03679
Known GenesIFT88
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14658376
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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