A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13270992



Internal ID6436865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102706138..102716175hg38UCSC Ensembl
Innerchr8:102706162..102716152hg38UCSC Ensembl
Outerchr8:102706115..102716199hg38UCSC Ensembl
chr8:103718366..103728403hg19UCSC Ensembl
Innerchr8:103718390..103728380hg19UCSC Ensembl
Outerchr8:103718343..103728427hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3810038
hg1910038
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618234
Supporting Variants
SamplesNA20507
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13270992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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