A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274988



Internal ID1208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14152686..14156285hg38UCSC Ensembl
Outerchr16:14151957..14156599hg38UCSC Ensembl
Innerchr16:14246543..14250142hg19UCSC Ensembl
Outerchr16:14245814..14250456hg19UCSC Ensembl
Innerchr16:14154044..14157643hg18UCSC Ensembl
Outerchr16:14153315..14157957hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg384643
hg194643
hg184643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585111, essv2585545
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)esv274988
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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