A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353650



Internal ID15200631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71570714..71572512hg38UCSC Ensembl
Innerchr2:71571512..71571714hg38UCSC Ensembl
Outerchr2:71569714..71573512hg38UCSC Ensembl
chr2:71797844..71799642hg19UCSC Ensembl
Innerchr2:71798642..71798844hg19UCSC Ensembl
Outerchr2:71796844..71800642hg19UCSC Ensembl
chr2:71651352..71653150hg18UCSC Ensembl
Innerchr2:71652352..71652150hg18UCSC Ensembl
Outerchr2:71650352..71654150hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2167e59
Supporting Variantsessv8693688
SamplesNA19239
Known GenesDYSF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353650
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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