A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693537



Internal ID15036246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238295772..238296770hg38UCSC Ensembl
Innerchr2:238295771..238296771hg38UCSC Ensembl
Outerchr2:238294772..238297770hg38UCSC Ensembl
chr2:239204413..239205411hg19UCSC Ensembl
Innerchr2:239204412..239205412hg19UCSC Ensembl
Outerchr2:239203413..239206411hg19UCSC Ensembl
chr2:238869152..238870150hg18UCSC Ensembl
Innerchr2:238870151..238869151hg18UCSC Ensembl
Outerchr2:238868152..238871150hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3435404
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693537
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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