A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720914



Internal ID9955210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143555896..143556015hg38UCSC Ensembl
Outerchr2:144313465..144313584hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669613, essv6942256
SamplesSSM023, SSM031
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)esv2720914
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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