A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040768



Internal ID516992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64421762..64423909hg38UCSC Ensembl
Innerchr14:64421762..64423909hg38UCSC Ensembl
Outerchr14:64421529..64424151hg38UCSC Ensembl
chr14:64888480..64890627hg19UCSC Ensembl
Innerchr14:64888480..64890627hg19UCSC Ensembl
Outerchr14:64888247..64890869hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634752
Supporting Variants
SamplesHG00186
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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