A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728050



Internal ID9962362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101090763..101091089hg38UCSC Ensembl
Outerchr4:102011920..102012246hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704608, essv6676079, essv6930008
SamplesSSM040, SSM020, SSM032
Known GenesPPP3CA
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)esv2728050
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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