A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667804



Internal ID9587223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1503276..1504209hg38UCSC Ensembl
chr8:1451442..1452375hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6226289, essv6057908, essv5456276, essv6406297
SamplesNA19819, HG01125, NA19346, NA19431
Known GenesDLGAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667804
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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