A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718597



Internal ID9952889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42843919..42914687hg38UCSC Ensembl
Outerchr19:43348071..43418839hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3870769
hg1970769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717860, essv6788843, essv6733197, essv6909804, essv6950209, essv6810157, essv6852824, essv6807167, essv6667032, essv6735833, essv6792950, essv6888805, essv6858794, essv6764029, essv6703570, essv6721701
SamplesSSM024, SSM075, SSM087, SSM039, SSM074, SSM047, SSM069, SSM096, SSM062, SSM044, SSM014, SSM086, SSM070, SSM004, SSM043, SSM049
Known GenesPSG1, PSG10P, PSG6
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)esv2718597
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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