A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586079



Internal ID347658
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275107
Supporting Variants
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)essv2586079
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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