A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736762



Internal ID9971094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52068871..52069095hg38UCSC Ensembl
Outerchr10:53828631..53828855hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936340, essv6834616, essv6948746, essv6912286, essv6976582
SamplesSSM082, SSM024, SSM029, SSM003, SSM015
Known GenesPRKG1
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)esv2736762
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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