A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275007



Internal ID1227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45541395..45542245hg38UCSC Ensembl
Outerchr13:45539849..45542929hg38UCSC Ensembl
Innerchr13:46115530..46116380hg19UCSC Ensembl
Outerchr13:46113984..46117064hg19UCSC Ensembl
Innerchr13:45013531..45014381hg18UCSC Ensembl
Outerchr13:45011985..45015065hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg383081
hg193081
hg183081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585679
Samples
Known GenesFAM194B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275007
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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