A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13054193



Internal ID6772228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:360801..382546hg38UCSC Ensembl
Innerchr8:361301..382046hg38UCSC Ensembl
Outerchr8:359801..383546hg38UCSC Ensembl
chr8:310801..332546hg19UCSC Ensembl
Innerchr8:311301..332046hg19UCSC Ensembl
Outerchr8:309801..333546hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3821746
hg1921746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615782
Supporting Variants
SamplesNA20876
Known GenesFAM87A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13054193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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