A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617801



Internal ID7004686
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13240446, essv13240447, essv13240444, essv13240448, essv13240445
SamplesHG02356, HG02073, HG02397, NA18555, HG02406
Known GenesZFAND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617801
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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