A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988111



Internal ID12979694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215453514..215544835hg38UCSC Ensembl
Innerchr2:216318237..216409558hg19UCSC Ensembl
Innerchr2:216026482..216117803hg18UCSC Ensembl
Innerchr2:216143743..216235064hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3891322
hg1991322
hg1891322
hg1791322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34272
Supporting Variants
SamplesNA18500
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988111
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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