A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836784



Internal ID14691178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107072728..107072729hg38UCSC Ensembl
Innerchr7:107072694..107072763hg38UCSC Ensembl
Outerchr7:107072693..107072764hg38UCSC Ensembl
chr7:106713173..106713174hg19UCSC Ensembl
Innerchr7:106713139..106713208hg19UCSC Ensembl
Outerchr7:106713138..106713209hg19UCSC Ensembl
chr7:106500409..106500410hg18UCSC Ensembl
Innerchr7:106500444..106500375hg18UCSC Ensembl
Outerchr7:106500374..106500445hg18UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309807
Supporting Variants
SamplesNA19239
Known GenesPRKAR2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836784
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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