A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640134



Internal ID7026910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17622493..17630621hg38UCSC Ensembl
chr17:17525807..17533935hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388129
hg198129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15635807, essv15635808, essv15635803, essv15635816, essv15635798, essv15635805, essv15635815, essv15635811, essv15635814, essv15635801, essv15635802, essv15635806, essv15635799, essv15635812, essv15635809, essv15635813, essv15635810, essv15635800, essv15635797, essv15635804
SamplesHG03057, HG02476, HG03372, NA20850, NA18868, NA19445, HG03583, NA20318, NA19210, HG03132, NA19236, NA19338, NA18523, HG02255, HG03117, HG01342, NA19143, HG03066, HG02107, HG02051
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640134
Frequency
Sample Size2504
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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