A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13061681



Internal ID3063506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1503260..1504229hg38UCSC Ensembl
Innerchr8:1503260..1504229hg38UCSC Ensembl
Outerchr8:1503103..1504385hg38UCSC Ensembl
chr8:1451426..1452395hg19UCSC Ensembl
Innerchr8:1451426..1452395hg19UCSC Ensembl
Outerchr8:1451269..1452551hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38970
hg19970
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615837
Supporting Variants
SamplesHG02108
Known GenesDLGAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13061681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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