A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13116679



Internal ID6427682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14180781..14207093hg38UCSC Ensembl
Innerchr8:14181281..14206593hg38UCSC Ensembl
Outerchr8:14179781..14208093hg38UCSC Ensembl
chr8:14038290..14064602hg19UCSC Ensembl
Innerchr8:14038790..14064102hg19UCSC Ensembl
Outerchr8:14037290..14065602hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3826313
hg1926313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616356
Supporting Variants
SamplesNA20504
Known GenesSGCZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13116679
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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