A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751814



Internal ID12638680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110077402..110223048hg38UCSC Ensembl
Innerchr2:110834979..110980625hg19UCSC Ensembl
Innerchr2:110192268..110337914hg18UCSC Ensembl
Innerchr2:110192354..110338000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38145647
hg19145647
hg18145647
hg17145647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv154e55
Supporting Variantsessv6989770, essv6983304, essv6983303
SamplesBEC_636
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
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)esv2751814
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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