A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730846



Internal ID9965163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141193679..141210136hg38UCSC Ensembl
Outerchr5:140573252..140589708hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816458
hg1916457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683873, essv6736846, essv6837279
SamplesSSM083, SSM050, SSM034
Known GenesPCDHB10, PCDHB11, PCDHB12
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)esv2730846
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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