A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736718



Internal ID9971050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51553783..51554073hg38UCSC Ensembl
Outerchr10:53313543..53313833hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894386, essv6908549, essv6823326
SamplesSSM079, SSM014, SSM098
Known GenesPRKG1
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)esv2736718
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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