A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719955



Internal ID9954250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:40200050..40200227hg38UCSC Ensembl
Outerchr2:40427190..40427367hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902809
SamplesSSM013
Known GenesSLC8A1, SLC8A1-AS1
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)esv2719955
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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