A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722772



Internal ID10306408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:216011961..216012254hg38UCSC Ensembl
Outerchr1:216185303..216185596hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836340, essv6720120, essv6929235, essv6810459, essv6871850, essv6793470, essv6722156, essv6883383, essv6797624, essv6818020, essv6921909, essv6955005
SamplesSSM083, SSM071, SSM045, SSM018, SSM026, SSM072, SSM020, SSM007, SSM076, SSM010, SSM091, SSM095
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)esv2722772
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer