A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663412



Internal ID9582831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53852690..53866355hg38UCSC Ensembl
Outerchr19:53852653..53866405hg38UCSC Ensembl
Innerchr19:54355944..54369609hg19UCSC Ensembl
Outerchr19:54355907..54369659hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3813753
hg1913753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5457673, essv6361571
SamplesNA11995, NA20544
Known GenesMYADM
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663412
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