A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730323



Internal ID9964639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76723298..76723500hg38UCSC Ensembl
Outerchr5:76019123..76019325hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767345
SamplesSSM064
Known GenesF2R
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)esv2730323
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