A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928761



Internal ID9691283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11922486..11962855hg38UCSC Ensembl
Outerchr19:12033301..12073670hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3840370
hg1940370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718187
Supporting Variants
SamplesSSM019
Known GenesZNF700
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)essv6928761
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