A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6027295



Internal ID9004698
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 Flag1
Merged StatusS
Merged Variantsesv2675781
Supporting Variants
SamplesHG00437
Known GenesGCH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6027295
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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