A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34352



Internal ID12643705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2232532..2459575hg38UCSC Ensembl
Innerchr3:2274216..2501259hg19UCSC Ensembl
Innerchr3:2249216..2476259hg18UCSC Ensembl
Innerchr3:2249216..2476259hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38227044
hg19227044
hg18227044
hg17227044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979647, essv6979645, essv6979646, essv6986918, essv6990391
SamplesNA18592
Known GenesCNTN4
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)esv34352
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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