A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634565



Internal ID6674682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54853090..54859538hg38UCSC Ensembl
Innerchr14:54853090..54859538hg38UCSC Ensembl
Outerchr14:54852961..54859678hg38UCSC Ensembl
chr14:55319808..55326256hg19UCSC Ensembl
Innerchr14:55319808..55326256hg19UCSC Ensembl
Outerchr14:55319679..55326396hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg386449
hg196449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15019118, essv15019119
SamplesHG00565, HG00437
Known GenesGCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634565
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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