A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730881



Internal ID9965198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147000227..147000884hg38UCSC Ensembl
Outerchr5:146379790..146380447hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748613, essv6667462, essv6759891, essv6934544, essv6770637, essv6974507, essv6854991, essv6670902, essv6745826, essv6767395
SamplesSSM064, SSM065, SSM087, SSM021, SSM061, SSM029, SSM031, SSM055, SSM056, SSM030
Known GenesPPP2R2B
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)esv2730881
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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