A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751888



Internal ID12638754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32314167..33106482hg38UCSC Ensembl
Innerchr2:32539236..33331549hg19UCSC Ensembl
Innerchr2:32392740..33185053hg18UCSC Ensembl
Innerchr2:32450887..33243200hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38792316
hg19792314
hg18792314
hg17792314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986387, essv6983264, essv6983263, essv6983265, essv6988645
SamplesBEC_560
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
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)esv2751888
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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