A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735427



Internal ID3285923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151873893..151874662hg38UCSC Ensembl
Outerchr7:151570978..151571747hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915404, essv6706142, essv6948219, essv6975479, essv6764287, essv6902974, essv6830545, essv6731252, essv6891254
SamplesSSM006, SSM016, SSM024, SSM012, SSM029, SSM047, SSM002, SSM008, SSM081
Known GenesPRKAG2
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)esv2735427
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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