A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934144



Internal ID10042835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47976180..47976372hg38UCSC Ensembl
Outerchr4:47978197..47978389hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727535, esv2727536
Supporting Variants
SamplesSSM021
Known GenesCNGA1
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)essv6934144
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