A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13205534



Internal ID5288052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56971146..56973552hg38UCSC Ensembl
Innerchr8:56971162..56973537hg38UCSC Ensembl
Outerchr8:56971131..56973568hg38UCSC Ensembl
chr8:57883705..57886111hg19UCSC Ensembl
Innerchr8:57883721..57886096hg19UCSC Ensembl
Outerchr8:57883690..57886127hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617308
Supporting Variants
SamplesNA18740
Known GenesIMPAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13205534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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