A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6340102



Internal ID9722495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116993185..116995935hg38UCSC Ensembl
chr8:118005424..118008174hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674208
Supporting Variants
SamplesNA19473
Known GenesSLC30A8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6340102
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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