A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13200246



Internal ID3202062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51342110..51348113hg38UCSC Ensembl
Innerchr8:51342110..51348113hg38UCSC Ensembl
Outerchr8:51341961..51348265hg38UCSC Ensembl
chr8:52254670..52260673hg19UCSC Ensembl
Innerchr8:52254670..52260673hg19UCSC Ensembl
Outerchr8:52254521..52260825hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617195
Supporting Variants
SamplesNA19904
Known GenesPXDNL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13200246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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