A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721612



Internal ID10305248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231249532..231250276hg38UCSC Ensembl
Outerchr2:232114245..232114989hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739238, essv6756859, essv6698564, essv6748132, essv6752720, essv6764477, essv6875071
SamplesSSM059, SSM008, SSM092, SSM006, SSM052, SSM056, SSM063
Known GenesARMC9
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)esv2721612
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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