A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751996



Internal ID12638862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2329193..2583595hg38UCSC Ensembl
Innerchr3:2370877..2625279hg19UCSC Ensembl
Innerchr3:2345877..2600279hg18UCSC Ensembl
Innerchr3:2345877..2600279hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38254403
hg19254403
hg18254403
hg17254403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982522, essv6989310, essv6982521
SamplesBEC_462
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)esv2751996
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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