A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968784



Internal ID9643738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52302248..52302491hg38UCSC Ensembl
Outerchr10:54062008..54062251hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736829, esv2736851
Supporting Variants
SamplesSSM004
Known GenesPRKG1-AS1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6968784
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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