A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13367747



Internal ID6709373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143668966..143695856hg38UCSC Ensembl
Innerchr8:143669466..143695356hg38UCSC Ensembl
Outerchr8:143667966..143696856hg38UCSC Ensembl
chr8:144751136..144778026hg19UCSC Ensembl
Innerchr8:144751636..144777526hg19UCSC Ensembl
Outerchr8:144750136..144779026hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3826891
hg1926891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619115
Supporting Variants
SamplesNA20845
Known GenesZNF707
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13367747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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