A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731010



Internal ID10314646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:163574108..163574529hg38UCSC Ensembl
Outerchr5:163001114..163001535hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855022, essv6963488, essv6860648, essv6907387, essv6778045, essv6826247, essv6670924, essv6774488
SamplesSSM027, SSM087, SSM088, SSM031, SSM067, SSM014, SSM066, SSM080
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)esv2731010
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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