A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274862



Internal ID1082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29817223..29817607hg38UCSC Ensembl
Outerchr19:29816544..29819651hg38UCSC Ensembl
Innerchr19:30308130..30308514hg19UCSC Ensembl
Outerchr19:30307451..30310558hg19UCSC Ensembl
Innerchr19:34999970..35000354hg18UCSC Ensembl
Outerchr19:34999291..35002398hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg383108
hg193108
hg183108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586016
Samples
Known GenesCCNE1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274862
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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