A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693687



Internal ID15075050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71570114..71572612hg38UCSC Ensembl
Innerchr2:71571114..71571612hg38UCSC Ensembl
Outerchr2:71569114..71573612hg38UCSC Ensembl
chr2:71797244..71799742hg19UCSC Ensembl
Innerchr2:71798244..71798742hg19UCSC Ensembl
Outerchr2:71796244..71800742hg19UCSC Ensembl
chr2:71650752..71653250hg18UCSC Ensembl
Innerchr2:71651752..71652250hg18UCSC Ensembl
Outerchr2:71649752..71654250hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426297
Supporting Variants
SamplesNA19240
Known GenesDYSF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693687
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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