A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751812



Internal ID12638678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109699637..110222769hg38UCSC Ensembl
Innerchr2:110457214..110980346hg19UCSC Ensembl
Innerchr2:109814503..110337635hg18UCSC Ensembl
Innerchr2:109814589..110337721hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38523133
hg19523133
hg18523133
hg17523133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983588, essv6983587
SamplesBEC_670
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6, RGPD8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751812
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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