A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002744



Internal ID1489335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45640529..45722140hg38UCSC Ensembl
Innerchr14:45640573..45722097hg38UCSC Ensembl
Outerchr14:45640486..45722184hg38UCSC Ensembl
chr14:46109732..46191343hg19UCSC Ensembl
Innerchr14:46109776..46191300hg19UCSC Ensembl
Outerchr14:46109689..46191387hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3881612
hg1981612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634356
Supporting Variants
SamplesHG01369
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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