A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721398



Internal ID10305034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206375163..206375372hg38UCSC Ensembl
Outerchr2:207239887..207240096hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686529, essv6864518, essv6847737, essv6669706, essv6962281, essv6859733, essv6853922, essv6906581
SamplesSSM027, SSM087, SSM088, SSM089, SSM035, SSM031, SSM014, SSM086
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)esv2721398
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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