A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780905



Internal ID10189426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41635347..41635792hg38UCSC Ensembl
Outerchr1:42101018..42101463hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747497
Supporting Variants
SamplesSSM068
Known GenesHIVEP3
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)essv6780905
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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