A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720418



Internal ID9954714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97196078..97205587hg38UCSC Ensembl
Outerchr2:97861815..97871324hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg389510
hg199510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933678, essv6787500, essv6787511, essv6667081
SamplesSSM009, SSM021, SSM030
Known GenesANKRD36
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)esv2720418
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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