A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979452



Internal ID12633519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110085531..110198066hg38UCSC Ensembl
Innerchr2:110843108..110955643hg19UCSC Ensembl
Innerchr2:110200397..110312932hg18UCSC Ensembl
Innerchr2:110200483..110313018hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38112536
hg19112536
hg18112536
hg17112536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34708
Supporting Variants
SamplesNA18558
Known GenesMALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979452
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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