A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661047



Internal ID9580466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10978761..10981046hg38UCSC Ensembl
Outerchr6:10978724..10981096hg38UCSC Ensembl
Innerchr6:10978994..10981279hg19UCSC Ensembl
Outerchr6:10978957..10981329hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg382373
hg192373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6547467, essv6166994
SamplesNA19373, NA19468
Known GenesELOVL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661047
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer