A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6112090



Internal ID9763045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125324550..125324872hg38UCSC Ensembl
chr8:126336792..126337114hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672529
Supporting Variants
SamplesNA19719
Known GenesNSMCE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6112090
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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