A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13301365



Internal ID6669415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117861555..117863350hg38UCSC Ensembl
Innerchr8:117861555..117863350hg38UCSC Ensembl
Outerchr8:117861216..117863634hg38UCSC Ensembl
chr8:118873794..118875589hg19UCSC Ensembl
Innerchr8:118873794..118875589hg19UCSC Ensembl
Outerchr8:118873455..118875873hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618562
Supporting Variants
SamplesNA20809
Known GenesEXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13301365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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