A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728084



Internal ID9962396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248188538..248188775hg38UCSC Ensembl
Outerchr1:248351840..248352077hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844063, essv6697146, essv6797694, essv6816853, essv6785216, essv6892523, essv6883419, essv6955102, essv6742324
SamplesSSM053, SSM078, SSM072, SSM085, SSM095, SSM069, SSM038, SSM026, 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)esv2728084
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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