A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364452



Internal ID2975437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143036531..143040597hg38UCSC Ensembl
Innerchr8:143036532..143040597hg38UCSC Ensembl
Outerchr8:143036531..143040598hg38UCSC Ensembl
chr8:144117948..144122014hg19UCSC Ensembl
Innerchr8:144117949..144122014hg19UCSC Ensembl
Outerchr8:144117948..144122015hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384067
hg194067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619096
Supporting Variants
SamplesHG02624
Known GenesC8orf31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364452
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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