A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716117



Internal ID10299753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110773630..110774444hg38UCSC Ensembl
Outerchr1:111316252..111317066hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv30e201
Supporting Variantsessv6902613, essv6729704, essv6785080, essv6946570, essv6877488, essv6801682, essv6917520, essv6669855, essv6968015, essv6829085, essv6692862, essv6950639, essv6929150, essv6703919, essv6816692, essv6874779, essv6937753, essv6853362, essv6843955
SamplesSSM024, SSM087, SSM013, SSM073, SSM028, SSM092, SSM047, SSM069, SSM017, SSM085, SSM081, SSM040, SSM020, SSM078, SSM005, SSM037, SSM022, SSM025, 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)esv2716117
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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