A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989058



Internal ID12979447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36125971..36322823hg38UCSC Ensembl
Innerchr2:36353114..36549966hg19UCSC Ensembl
Innerchr2:36206618..36403470hg18UCSC Ensembl
Innerchr2:36264765..36461617hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38196853
hg19196853
hg18196853
hg17196853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34222
Supporting Variants
SamplesNA12814
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989058
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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