A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785384



Internal ID9843641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108447930..108448409hg38UCSC Ensembl
Outerchr2:109064386..109064865hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720500, esv2720498
Supporting Variants
SamplesSSM069
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)essv6785384
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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