A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670312



Internal ID9740531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69245886..69349943hg38UCSC Ensembl
Outerchr4:70111604..70215661hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38104058
hg19104058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727780, esv2727778
Supporting Variants
SamplesSSM031
Known GenesUGT2B28
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)essv6670312
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