A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669220



Internal ID9741513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215912438..215912499hg38UCSC Ensembl
Outerchr1:216085780..216085841hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722739, esv2722750
Supporting Variants
SamplesSSM031
Known GenesUSH2A
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)essv6669220
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