A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718486



Internal ID9952777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34578308..34596878hg38UCSC Ensembl
Outerchr19:35069213..35087783hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3818571
hg1918571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941441, essv6868416
SamplesSSM089, SSM022
Known GenesSCGB2B2
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)esv2718486
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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