A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670134



Internal ID9740691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2442906..2443022hg38UCSC Ensembl
Outerchr4:2444633..2444749hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726852, esv2726847, esv2726835, esv2726849
Supporting Variants
SamplesSSM031
Known GenesLOC402160
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)essv6670134
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