A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6752720



Internal ID9655057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231249603..231250210hg38UCSC Ensembl
Outerchr2:232114316..232114923hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721612
Supporting Variants
SamplesSSM008
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)essv6752720
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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