A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666682



Internal ID9586101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67536095..67537567hg38UCSC Ensembl
chr14:68002812..68004284hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6260684, essv5711043, essv6590487, essv5729434, essv5529501, essv5825482, essv5898754, essv5827599, essv5459434, essv5537734, essv6513475, essv5824423, essv5860125
SamplesNA19625, NA18874, NA19463, NA19313, NA19380, NA19703, NA19375, NA19382, NA18867, NA18917, NA19916, HG01462, NA19473
Known GenesPLEKHH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666682
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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