A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275333



Internal ID348239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87848768..87849236hg38UCSC Ensembl
Outerchr4:87845856..87849407hg38UCSC Ensembl
Innerchr4:88769920..88770388hg19UCSC Ensembl
Outerchr4:88767008..88770559hg19UCSC Ensembl
Innerchr4:88988944..88989412hg18UCSC Ensembl
Outerchr4:88986032..88989583hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383552
hg193552
hg183552
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585157, essv2585387
Samples
Known GenesMEPE
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275333
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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