A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714762



Internal ID9949047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91668449..91669297hg38UCSC Ensembl
Outerchr1:92134006..92134854hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26e201
Supporting Variantsessv6950806, essv6902601, essv6931261, essv6669070, essv6972476, essv6917503, essv6756604
SamplesSSM059, SSM013, SSM029, SSM017, SSM031, SSM001, SSM004
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)esv2714762
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer