A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718533



Internal ID10302169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38498999..38500148hg38UCSC Ensembl
Outerchr19:38989639..38990788hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852816, essv6921370, essv6666475, essv6932971, essv6839669, essv6792942, essv6674814, essv6784668, essv6937339, essv6925372
SamplesSSM083, SSM021, SSM018, SSM029, SSM017, SSM031, SSM086, SSM068, SSM020, SSM070
Known GenesRYR1
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)esv2718533
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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