A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666342



Internal ID10079858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1368830..1368975hg38UCSC Ensembl
Outerchr19:1368829..1368974hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717842, esv2717841
Supporting Variants
SamplesSSM029
Known GenesMUM1
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)essv6666342
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