A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683678



Internal ID9751587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183642187..183642427hg38UCSC Ensembl
Outerchr4:184563340..184563580hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728874
Supporting Variants
SamplesSSM034
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)essv6683678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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