A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715118



Internal ID10298754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:96524143..96524524hg38UCSC Ensembl
Outerchr1:96989699..96990080hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e201
Supporting Variantsessv6847136, essv6669075, essv6917505, essv6729695, essv6793369, essv6769593, essv6954864, essv6689317, essv6825055, essv6780953, essv6722067, essv6921803, essv6950631, essv6692850, essv6749242, essv6941863, essv6699673
SamplesSSM036, SSM008, SSM071, SSM045, SSM065, SSM039, SSM023, SSM047, SSM018, SSM026, SSM017, SSM031, SSM086, SSM068, SSM080, SSM037, SSM025
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)esv2715118
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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