A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728785



Internal ID9963100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177190996..177191109hg38UCSC Ensembl
Outerchr4:178112150..178112263hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956376
SamplesSSM026
Known Genes
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)esv2728785
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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