A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267553



Internal ID5033951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99593553..99595682hg38UCSC Ensembl
Innerchr8:99593553..99595682hg38UCSC Ensembl
Outerchr8:99593470..99595778hg38UCSC Ensembl
chr8:100605781..100607910hg19UCSC Ensembl
Innerchr8:100605781..100607910hg19UCSC Ensembl
Outerchr8:100605698..100608006hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618179
Supporting Variants
SamplesNA18522
Known GenesVPS13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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