A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641363



Internal ID7028137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80095889..80100226hg38UCSC Ensembl
chr17:78069688..78074025hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384338
hg194338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15756241, essv15756237, essv15756244, essv15756243, essv15756245, essv15756239, essv15756242, essv15756238, essv15756247, essv15756240, essv15756246
SamplesHG04096, NA18508, HG03717, HG04002, HG02734, NA18993, NA21129, HG03742, HG04026, NA20870, NA21126
Known GenesCCDC40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641363
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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