A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954915



Internal ID10063796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:151859098..151859163hg38UCSC Ensembl
Outerchr1:151831574..151831639hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717940, esv2717929
Supporting Variants
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)essv6954915
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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