A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707578



Internal ID9773633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108238959..108239824hg38UCSC Ensembl
Outerchr2:108855415..108856280hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720498, esv2720499
Supporting Variants
SamplesSSM041
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)essv6707578
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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