A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700634



Internal ID9766946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166083176..166083770hg38UCSC Ensembl
Outerchr4:167004328..167004922hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728689
Supporting Variants
SamplesSSM039
Known GenesTLL1
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)essv6700634
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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