A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736851



Internal ID9971184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52302246..52302489hg38UCSC Ensembl
Outerchr10:54062006..54062249hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728027, essv6856714, essv6681294, essv6803299, essv6968784, essv6904625, essv6862003
SamplesSSM013, SSM033, SSM088, SSM009, SSM087, SSM046, SSM004
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)esv2736851
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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