A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614454



Internal ID7001348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107083349..107089096hg38UCSC Ensembl
Innerchr7:107083378..107089068hg38UCSC Ensembl
Outerchr7:107083321..107089125hg38UCSC Ensembl
chr7:106723794..106729541hg19UCSC Ensembl
Innerchr7:106723823..106729513hg19UCSC Ensembl
Outerchr7:106723766..106729570hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg385748
hg195748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12917692, essv12917689, essv12917695, essv12917691, essv12917690, essv12917688, essv12917686, essv12917693, essv12917694, essv12917687
SamplesHG01676, HG03685, HG01200, NA19391, HG01403, HG04227, NA19072, HG00638, HG01302, NA20807
Known GenesPRKAR2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614454
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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