A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652198



Internal ID15102253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236887229..236887596hg38UCSC Ensembl
Innerchr2:236887229..236887596hg38UCSC Ensembl
Outerchr2:236887222..236887720hg38UCSC Ensembl
chr2:237795872..237796239hg19UCSC Ensembl
Innerchr2:237795872..237796239hg19UCSC Ensembl
Outerchr2:237795865..237796363hg19UCSC Ensembl
chr2:237460611..237460978hg18UCSC Ensembl
Innerchr2:237460611..237460978hg18UCSC Ensembl
Outerchr2:237460604..237461102hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38368
hg19368
hg18368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432044
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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