A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717866



Internal ID10301502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1968040..1968451hg38UCSC Ensembl
Outerchr19:1968039..1968450hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967392, essv6843471, essv6733119, essv6828682, essv6868352, essv6776623, essv6699372, essv6678827
SamplesSSM027, SSM038, SSM084, SSM047, SSM089, SSM032, SSM066, SSM080
Known GenesCSNK1G2
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)esv2717866
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer