A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13237389



Internal ID2392503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78699936..78700532hg38UCSC Ensembl
Innerchr8:78699986..78700482hg38UCSC Ensembl
Outerchr8:78699886..78700582hg38UCSC Ensembl
chr8:79612171..79612767hg19UCSC Ensembl
Innerchr8:79612221..79612717hg19UCSC Ensembl
Outerchr8:79612121..79612817hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617740
Supporting Variants
SamplesHG02122
Known GenesZC2HC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13237389
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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