A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730086



Internal ID10313722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:37583309..37584006hg38UCSC Ensembl
Outerchr5:37583411..37584108hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844715, essv6764838, essv6758309, essv6893279, essv6739751, essv6886821, essv6833577, essv6680189, essv6854867, essv6926085, essv6922831, essv6886042
SamplesSSM008, SSM087, SSM018, SSM096, SSM003, SSM033, SSM085, SSM082, SSM052, SSM098, SSM063, SSM012
Known GenesWDR70
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)esv2730086
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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