A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721037



Internal ID10304673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160089834..160089981hg38UCSC Ensembl
Outerchr2:160946345..160946492hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962213, essv6847673, essv6853861, essv6880722, essv6906532, essv6955452, essv6817064, essv6859674
SamplesSSM027, SSM087, SSM088, SSM026, SSM094, SSM014, SSM086, SSM078
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)esv2721037
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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