A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791765



Internal ID10003600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:122789099..122789559hg38UCSC Ensembl
Outerchr4:123710254..123710714hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728264
Supporting Variants
SamplesSSM009
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)essv6791765
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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