A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368551



Internal ID15215527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238520172..238521570hg38UCSC Ensembl
Innerchr2:238520570..238521172hg38UCSC Ensembl
Outerchr2:238519172..238522570hg38UCSC Ensembl
chr2:239428813..239430211hg19UCSC Ensembl
Innerchr2:239429211..239429813hg19UCSC Ensembl
Outerchr2:239427813..239431211hg19UCSC Ensembl
chr2:239093552..239094950hg18UCSC Ensembl
Innerchr2:239094552..239093950hg18UCSC Ensembl
Outerchr2:239092552..239095950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2371e59
Supporting Variantsessv8693544
SamplesNA19240
Known GenesLINC01107
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368551
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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