A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802158



Internal ID9860283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7994158..7995151hg38UCSC Ensembl
Outerchr4:7995885..7996878hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727098
Supporting Variants
SamplesSSM073
Known GenesABLIM2
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)essv6802158
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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