A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736829



Internal ID9971161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52301743..52302749hg38UCSC Ensembl
Outerchr10:54061503..54062509hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803299, essv6866752, essv6728027, essv6968784, essv6740795, essv6668051, essv6862003, essv6965275, essv6904625, essv6681294, essv6819323, essv6856714
SamplesSSM027, SSM046, SSM087, SSM013, SSM009, SSM088, SSM089, SSM033, SSM078, SSM004, SSM052, SSM030
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)esv2736829
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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