A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720913



Internal ID9955209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143169755..143169839hg38UCSC Ensembl
Outerchr2:143927324..143927408hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962187
SamplesSSM027
Known GenesARHGAP15
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)esv2720913
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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