A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715107



Internal ID10298743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:96523819..96525197hg38UCSC Ensembl
Outerchr1:96989375..96990753hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847136, essv6669075, essv6917505, essv6729695, essv6793369, essv6769593, essv6954864, essv6689317, essv6825055, essv6780953, essv6722067, essv6921803, essv6950631, essv6972482, essv6937747, essv6692850, essv6877431, essv6749242, essv6941863, essv6699673, essv6666943
SamplesSSM036, SSM008, SSM071, SSM045, SSM065, SSM039, SSM023, SSM047, SSM018, SSM029, SSM026, SSM017, SSM031, SSM086, SSM068, SSM080, SSM037, SSM022, SSM025, SSM030, SSM012
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)esv2715107
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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