A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717893



Internal ID9952184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2432786..2432995hg38UCSC Ensembl
Outerchr19:2432784..2432993hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852729, essv6710303, essv6666350, essv6824615, essv6967400
SamplesSSM027, SSM079, SSM041, SSM029, SSM086
Known GenesLMNB2
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)esv2717893
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