A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847715



Internal ID10246424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190816083..190816137hg38UCSC Ensembl
Outerchr2:191680809..191680863hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721274, esv2721275, esv2721277
Supporting Variants
SamplesSSM086
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)essv6847715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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