A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971992



Internal ID9726688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54682818..54683198hg38UCSC Ensembl
Outerchr19:55194075..55194491hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38381
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718889, esv2718872, esv2718890
Supporting Variants
SamplesSSM028
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)essv6971992
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