A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5655914



Internal ID9601302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101777347..101784979hg38UCSC Ensembl
Innerchr2:102393809..102401441hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387633
hg197633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669350
Supporting Variants
SamplesNA19238
Known GenesMAP4K4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5655914
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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