A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751815



Internal ID12985367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110085048..110198066hg38UCSC Ensembl
Innerchr2:110842625..110955643hg19UCSC Ensembl
Innerchr2:110199914..110312932hg18UCSC Ensembl
Innerchr2:110200000..110313018hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38113019
hg19113019
hg18113019
hg17113019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv155e55
Supporting Variantsessv6983914, essv6987443
SamplesBEC_730
Known GenesMALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751815
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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