A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938431



Internal ID9701506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9874730..9874999hg38UCSC Ensembl
Outerchr4:9876354..9876623hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727156
Supporting Variants
SamplesSSM022
Known GenesSLC2A9
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)essv6938431
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