A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671510



Internal ID9993873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36728528..36728840hg38UCSC Ensembl
Outerchr2:36955671..36955983hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719924
Supporting Variants
SamplesSSM005
Known GenesVIT
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)essv6671510
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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