A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730905



Internal ID10314541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149326833..149327784hg38UCSC Ensembl
Outerchr5:148706396..148707347hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38952
hg19952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748616, essv6974511, essv6837286, essv6822312, essv6798687, essv6893363, essv6754395
SamplesSSM083, SSM079, SSM058, SSM029, SSM072, SSM098, SSM056
Known GenesAFAP1L1
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)esv2730905
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