A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720865



Internal ID9955161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135862095..135862485hg38UCSC Ensembl
Outerchr2:136619665..136620055hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693216, essv6872021
SamplesSSM091, SSM037
Known GenesMCM6
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)esv2720865
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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