A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586183



Internal ID1076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63297967..63297982hg38UCSC Ensembl
Outerchr2:63297752..63302726hg38UCSC Ensembl
Innerchr2:63525102..63525117hg19UCSC Ensembl
Outerchr2:63524887..63529861hg19UCSC Ensembl
Innerchr2:63378606..63378621hg18UCSC Ensembl
Outerchr2:63378391..63383365hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg384975
hg194975
hg184975
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274907
Supporting Variants
Samples
Known GenesWDPCP
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586183
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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