A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675781



Internal ID9941886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54853171..54859495hg38UCSC Ensembl
chr14:55319889..55326213hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg386325
hg196325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6333018, essv6027295
SamplesHG00565, HG00437
Known GenesGCH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675781
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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