A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854681



Internal ID9906010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183642243..183642406hg38UCSC Ensembl
Outerchr4:184563396..184563559hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728874
Supporting Variants
SamplesSSM087
Known GenesRWDD4
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)essv6854681
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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