A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822107



Internal ID9876692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177190919..177191259hg38UCSC Ensembl
Outerchr4:178112073..178112413hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728783, esv2728781, esv2728772, esv2728782
Supporting Variants
SamplesSSM079
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)essv6822107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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