A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751769



Internal ID12638635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:832528..1103206hg38UCSC Ensembl
Innerchr17:735768..1006446hg19UCSC Ensembl
Innerchr17:682518..953196hg18UCSC Ensembl
Innerchr17:682518..953196hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38270679
hg19270679
hg18270679
hg17270679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981969, essv6981968, essv6981967
SamplesBEC_51
Known GenesABR, MIR3183, NXN, TIMM22
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)esv2751769
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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