A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352439



Internal ID15199420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232898398..232900996hg38UCSC Ensembl
Innerchr2:232899398..232899996hg38UCSC Ensembl
Outerchr2:232897398..232901996hg38UCSC Ensembl
chr2:233763108..233765706hg19UCSC Ensembl
Innerchr2:233764108..233764706hg19UCSC Ensembl
Outerchr2:233762108..233766706hg19UCSC Ensembl
chr2:233471352..233473950hg18UCSC Ensembl
Innerchr2:233472352..233472950hg18UCSC Ensembl
Outerchr2:233470352..233474950hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2358e59
Supporting Variantsessv8693509
SamplesNA19240
Known GenesNGEF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352439
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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