A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6736607



Internal ID10146428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79966919..79972772hg38UCSC Ensembl
Outerchr4:80888073..80893926hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg385854
hg195854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727865
Supporting Variants
SamplesSSM050
Known GenesANTXR2
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)essv6736607
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