A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13240448



Internal ID5102961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81711224..81712471hg38UCSC Ensembl
Innerchr8:81711230..81712466hg38UCSC Ensembl
Outerchr8:81711219..81712477hg38UCSC Ensembl
chr8:82623459..82624706hg19UCSC Ensembl
Innerchr8:82623465..82624701hg19UCSC Ensembl
Outerchr8:82623454..82624712hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617801
Supporting Variants
SamplesNA18555
Known GenesZFAND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13240448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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