A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675284



Internal ID9745341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:107860348..107862863hg38UCSC Ensembl
Outerchr1:108402970..108405485hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382516
hg192516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715884
Supporting Variants
SamplesSSM032
Known GenesVAV3
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)essv6675284
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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