A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726202



Internal ID10309838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:171502931..171503153hg38UCSC Ensembl
Outerchr3:171220720..171220942hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777548, essv6962602, essv6833181, essv6955876, essv6854240, essv6817373, essv6675850, essv6889584, essv6864776, essv6859994, essv6693495, essv6906803, essv6848093, essv6707835, essv6825695
SamplesSSM027, SSM087, SSM097, SSM088, SSM041, SSM026, SSM089, SSM032, SSM067, SSM014, SSM086, SSM082, SSM078, SSM080, SSM037
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)esv2726202
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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