A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836203



Internal ID10236252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30795501..30795881hg38UCSC Ensembl
Outerchr1:31268348..31268728hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746230
Supporting Variants
SamplesSSM083
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)essv6836203
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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