A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15042950



Internal ID6515125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65088844..65090617hg38UCSC Ensembl
Innerchr14:65088844..65090617hg38UCSC Ensembl
Outerchr14:65088526..65090942hg38UCSC Ensembl
chr14:65555562..65557335hg19UCSC Ensembl
Innerchr14:65555562..65557335hg19UCSC Ensembl
Outerchr14:65555244..65557660hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381774
hg191774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634762
Supporting Variants
SamplesNA20539
Known GenesLOC100506321, MAX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15042950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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