A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972478



Internal ID10078926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91095800..93049130hg38UCSC Ensembl
Outerchr1:91561357..93514687hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381953331
hg191953331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714684
Supporting Variants
SamplesSSM029
Known GenesBRDT, BTBD8, C1orf146, CDC7, EPHX4, EVI5, FAM69A, GFI1, GLMN, HFM1, KIAA1107, RPAP2, RPL5, SNORA66, SNORD21, TGFBR3
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)essv6972478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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