A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753318



Internal ID10161236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41894564..41895219hg38UCSC Ensembl
Outerchr19:42398637..42399292hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718581
Supporting Variants
SamplesSSM057
Known GenesARHGEF1
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)essv6753318
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