A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721360



Internal ID9955656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200826608..200826758hg38UCSC Ensembl
Outerchr2:201691331..201691481hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955511, essv6864513, essv6669696, essv6840402, essv6883573
SamplesSSM084, 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)esv2721360
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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