A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937308



Internal ID9696092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20065842..20066213hg38UCSC Ensembl
Outerchr19:20176651..20177022hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718303, esv2718300, esv2718302, esv2718298, esv2718296, esv2718297
Supporting Variants
SamplesSSM021
Known Genes
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)essv6937308
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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