A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693538



Internal ID15073155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238295972..238296770hg38UCSC Ensembl
Innerchr2:238295971..238296771hg38UCSC Ensembl
Outerchr2:238294972..238297770hg38UCSC Ensembl
chr2:239204613..239205411hg19UCSC Ensembl
Innerchr2:239204612..239205412hg19UCSC Ensembl
Outerchr2:239203613..239206411hg19UCSC Ensembl
chr2:238869352..238870150hg18UCSC Ensembl
Innerchr2:238870151..238869351hg18UCSC Ensembl
Outerchr2:238868352..238871150hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3392744
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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