A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617607



Internal ID7004492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72001752..72011720hg38UCSC Ensembl
chr8:72913987..72923955hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg389969
hg199969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13223938
SamplesHG02570
Known GenesLOC100132891
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617607
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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