A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756341



Internal ID9816348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37259207..37325587hg38UCSC Ensembl
Outerchr19:37750109..37816489hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3866381
hg1966381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718515
Supporting Variants
SamplesSSM058
Known GenesLOC284412
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)essv6756341
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