A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275072



Internal ID1292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13720356..13720459hg38UCSC Ensembl
Outerchr10:13719274..13720786hg38UCSC Ensembl
Innerchr10:13762356..13762459hg19UCSC Ensembl
Outerchr10:13761274..13762786hg19UCSC Ensembl
Innerchr10:13802362..13802465hg18UCSC Ensembl
Outerchr10:13801280..13802792hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381513
hg191513
hg181513
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585696, essv2586122
Samples
Known GenesFRMD4A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275072
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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