A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6871799



Internal ID9921416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157570821..157571078hg38UCSC Ensembl
Outerchr1:157540611..157540868hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718507, esv2718518
Supporting Variants
SamplesSSM091
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)essv6871799
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