A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727953



Internal ID10311589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88698942..88699142hg38UCSC Ensembl
Outerchr4:89620093..89620293hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914704
SamplesSSM016
Known GenesHERC3
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)esv2727953
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