A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002627



Internal ID5004443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45141739..45143852hg38UCSC Ensembl
Innerchr14:45141770..45143821hg38UCSC Ensembl
Outerchr14:45141708..45143883hg38UCSC Ensembl
chr14:45610942..45613055hg19UCSC Ensembl
Innerchr14:45610973..45613024hg19UCSC Ensembl
Outerchr14:45610911..45613086hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg382114
hg192114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634343
Supporting Variants
SamplesNA20357
Known GenesFANCM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002627
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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