A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689936



Internal ID9759052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:24964809..24965503hg38UCSC Ensembl
Outerchr4:24966431..24967125hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727306
Supporting Variants
SamplesSSM036
Known GenesCCDC149
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)essv6689936
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