A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947666



Internal ID10056407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147561368..147561511hg38UCSC Ensembl
Outerchr5:146940931..146941074hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730890, esv2730891, esv2730892
Supporting Variants
SamplesSSM024
Known GenesJAKMIP2-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)essv6947666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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