A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756582



Internal ID10164955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58980931..58981474hg38UCSC Ensembl
Outerchr1:59446603..59447146hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748841, esv2748830
Supporting Variants
SamplesSSM059
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)essv6756582
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