A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721843



Internal ID9650627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143169515..143170028hg38UCSC Ensembl
Outerchr2:143927084..143927597hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720912
Supporting Variants
SamplesSSM007
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)essv6721843
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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