A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385600



Internal ID15232570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107072728..107072750hg38UCSC Ensembl
Innerchr7:107072725..107072751hg38UCSC Ensembl
Outerchr7:107072703..107072773hg38UCSC Ensembl
chr7:106713173..106713195hg19UCSC Ensembl
Innerchr7:106713170..106713196hg19UCSC Ensembl
Outerchr7:106713148..106713218hg19UCSC Ensembl
chr7:106500409..106500431hg18UCSC Ensembl
Innerchr7:106500432..106500406hg18UCSC Ensembl
Outerchr7:106500384..106500454hg18UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676645
SamplesNA19239
Known GenesPRKAR2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385600
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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