A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747197



Internal ID10328167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37350857..37351131hg38UCSC Ensembl
Outerchr1:37816458..37816732hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668989, essv6863982, essv6892338, essv6699619, essv6836211, essv6889022, essv6929090, essv6738830, essv6847052, essv6859217, essv6906113, essv6821203, essv6843987, essv6972395, essv6780903, essv6877681, essv6853272
SamplesSSM083, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM029, SSM089, SSM031, SSM014, SSM086, SSM068, SSM020, SSM052, SSM098
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)esv2747197
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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