A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718613



Internal ID9952905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43997819..43998285hg38UCSC Ensembl
Outerchr19:44501971..44502437hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696728, essv6902269, essv6703577, essv6946164, essv6801338
SamplesSSM039, SSM023, SSM072, SSM037, SSM012
Known GenesZNF155
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)esv2718613
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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