A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623881



Internal ID6664048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77609729..77835435hg38UCSC Ensembl
Innerchr10:77609879..77835285hg38UCSC Ensembl
Outerchr10:77609579..77835585hg38UCSC Ensembl
chr10:79369487..79595193hg19UCSC Ensembl
Innerchr10:79369637..79595043hg19UCSC Ensembl
Outerchr10:79369337..79595343hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38225707
hg19225707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13866599
SamplesNA18633
Known GenesDLG5, KCNMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623881
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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