A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852878



Internal ID9904386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55862155..55862229hg38UCSC Ensembl
Outerchr19:56373521..56373595hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718996, esv2718994
Supporting Variants
SamplesSSM086
Known GenesNLRP4
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)essv6852878
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