A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731156



Internal ID10314792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:175218782..175219208hg38UCSC Ensembl
Outerchr5:174645785..174646211hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715382, essv6676423, essv6934565, essv6956786, essv6855044, essv6848924, essv6778054
SamplesSSM087, SSM021, SSM026, SSM032, SSM067, SSM086, SSM043
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)esv2731156
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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