A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719677



Internal ID9953971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11784233..11784390hg38UCSC Ensembl
Outerchr2:11924359..11924516hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699911, essv6714525, essv6689509
SamplesSSM036, SSM039, SSM043
Known GenesLPIN1
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)esv2719677
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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