A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756316



Internal ID9816471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19885304..19885595hg38UCSC Ensembl
Outerchr19:19996113..19996404hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718299, esv2718298, esv2718296, esv2718297
Supporting Variants
SamplesSSM058
Known GenesZNF253
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)essv6756316
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