A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585387



Internal ID346966
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275333
Supporting Variants
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)essv2585387
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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