A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275107



Internal ID348013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100137757..100139121hg38UCSC Ensembl
Outerchr1:100136209..100139757hg38UCSC Ensembl
Innerchr1:100603313..100604677hg19UCSC Ensembl
Outerchr1:100601765..100605313hg19UCSC Ensembl
Innerchr1:100375901..100377265hg18UCSC Ensembl
Outerchr1:100374353..100377901hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383549
hg193549
hg183549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586079
Samples
Known GenesTRMT13
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275107
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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