A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275519



Internal ID1739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14244269..14244269hg38UCSC Ensembl
Outerchr16:14242961..14244559hg38UCSC Ensembl
Innerchr16:14338126..14338126hg19UCSC Ensembl
Outerchr16:14336818..14338416hg19UCSC Ensembl
Innerchr16:14245627..14245627hg18UCSC Ensembl
Outerchr16:14244319..14245917hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585200
Samples
Known GenesMKL2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275519
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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