A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728508



Internal ID9962822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:147537799..147537979hg38UCSC Ensembl
Outerchr4:148458951..148459131hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680040
SamplesSSM033
Known GenesEDNRA
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)esv2728508
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