A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275022



Internal ID1242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43117599..43125057hg38UCSC Ensembl
Outerchr10:43117578..43125103hg38UCSC Ensembl
Innerchr10:43613047..43620505hg19UCSC Ensembl
Outerchr10:43613026..43620551hg19UCSC Ensembl
Innerchr10:42933053..42940511hg18UCSC Ensembl
Outerchr10:42933032..42940557hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg387526
hg197526
hg187526
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586182, essv2585967
Samples
Known GenesRET
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275022
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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