A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002566



Internal ID5004382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45126285..45128141hg38UCSC Ensembl
Innerchr14:45126285..45128141hg38UCSC Ensembl
Outerchr14:45125983..45128479hg38UCSC Ensembl
chr14:45595488..45597344hg19UCSC Ensembl
Innerchr14:45595488..45597344hg19UCSC Ensembl
Outerchr14:45595186..45597682hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381857
hg191857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634342
Supporting Variants
SamplesHG00622
Known GenesFKBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002566
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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