A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721389



Internal ID10305025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205980374..205980584hg38UCSC Ensembl
Outerchr2:206845098..206845308hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745270, essv6693275, essv6675638, essv6726285, essv6962278, essv6859729, essv6781359, essv6853920, essv6697312, essv6955516, essv6718576, essv6829407
SamplesSSM027, SSM046, SSM087, SSM038, SSM088, SSM026, SSM032, SSM044, SSM068, SSM081, SSM037, SSM055
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)esv2721389
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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