A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6739355



Internal ID10150371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123478500..123479307hg38UCSC Ensembl
Outerchr3:123197347..123198154hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725838
Supporting Variants
SamplesSSM052
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)essv6739355
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