A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667302



Internal ID9737695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85696043..85696224hg38UCSC Ensembl
Outerchr4:86617196..86617377hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727923
Supporting Variants
SamplesSSM030
Known GenesARHGAP24
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)essv6667302
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