A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929969



Internal ID10038814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68580831..68676381hg38UCSC Ensembl
Outerchr4:69446549..69542099hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3895551
hg1995551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742954
Supporting Variants
SamplesSSM020
Known GenesUGT2B15
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)essv6929969
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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