A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674864



Internal ID9742096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19_KI270938v1_alt:675114..675244hg38UCSC Ensembl
Outerchr19:55204000..55204133hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38131
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718900, esv2718894, esv2718897, esv2718896, esv2718899, esv2718872, esv2718893, esv2718898, esv2718901
Supporting Variants
SamplesSSM031
Known Genes
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)essv6674864
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