A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667757



Internal ID9587176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45126264..45128111hg38UCSC Ensembl
chr14:45595467..45597314hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381848
hg191848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6461624, essv5570092, essv5961505, essv5607906, essv5740694, essv6426036, essv5667754, essv6530843, essv6370591, essv5442515, essv6453222, essv6584672, essv5755373
SamplesHG00608, NA18603, NA18596, NA18619, NA18985, NA18963, NA18542, NA18543, HG00565, NA19078, NA19004, NA18623, NA19063
Known GenesFKBP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667757
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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