A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678537



Internal ID9597956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149759123..149759743hg38UCSC Ensembl
chr6:150080259..150080879hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5953210, essv6522609, essv5521742, essv6132135, essv5987631
SamplesHG00427, HG00479, HG01357, NA18943, NA18610
Known GenesPCMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678537
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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