A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586089



Internal ID982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52309144..52309426hg38UCSC Ensembl
Outerchr10:52306061..52309576hg38UCSC Ensembl
Innerchr10:54068904..54069186hg19UCSC Ensembl
Outerchr10:54065821..54069336hg19UCSC Ensembl
Innerchr10:53738910..53739192hg18UCSC Ensembl
Outerchr10:53735827..53739342hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383516
hg193516
hg183516
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275139
Supporting Variants
Samples
Known GenesPRKG1-AS1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586089
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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