A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657899



Internal ID9924004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41088895..41089319hg38UCSC Ensembl
chr8:40946414..40946838hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5598660, essv5575042, essv5832583, essv5473705, essv6547152, essv6357002, essv6159787, essv6321928, essv6372640
SamplesNA19397, NA19377, NA19707, NA19248, NA19438, NA19713, NA19093, NA19661, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657899
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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