A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748607



Internal ID9811611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140828071..140841390hg38UCSC Ensembl
Outerchr5:140207656..140220975hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813320
hg1913320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730838
Supporting Variants
SamplesSSM056
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
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)essv6748607
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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