A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657865



Internal ID9923970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55344947..55345653hg38UCSC Ensembl
chr14:55811665..55812371hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6208627, essv5977232, essv6243429, essv5824323, essv5605216, essv5403852, essv6563231, essv5551355, essv5816919, essv5917064, essv6590133, essv6381989, essv6150065, essv5498650
SamplesNA20774, NA18618, HG01080, HG01072, HG00326, HG00739, HG00183, HG01383, HG00141, HG01551, NA19773, HG00186, HG01082, HG00180
Known GenesFBXO34
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657865
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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