A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721359



Internal ID9955655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200826383..200826992hg38UCSC Ensembl
Outerchr2:201691106..201691715hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955511, essv6864513, essv6669696, essv6756846, essv6840402, essv6883573
SamplesSSM059, SSM084, SSM026, SSM089, SSM031, SSM095
Known Genes
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)esv2721359
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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