A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751682



Internal ID12638548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4116672..4186588hg38UCSC Ensembl
Innerchr17:4019966..4089883hg19UCSC Ensembl
Innerchr17:3966715..4036632hg18UCSC Ensembl
Innerchr17:3966715..4036632hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3869917
hg1969918
hg1869918
hg1769918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983502, essv6983501
SamplesBEC_662
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751682
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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