A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640624



Internal ID7027399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43330771..43354166hg38UCSC Ensembl
chr17:41408139..41431534hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3823396
hg1923396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679291, essv15679290
SamplesNA18960, NA20753
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640624
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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