A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15023188



Internal ID2344240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56697160..56711117hg38UCSC Ensembl
Innerchr14:56697160..56711117hg38UCSC Ensembl
Outerchr14:56696660..56711617hg38UCSC Ensembl
chr14:57163878..57177835hg19UCSC Ensembl
Innerchr14:57163878..57177835hg19UCSC Ensembl
Outerchr14:57163378..57178335hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3813958
hg1913958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634594
Supporting Variants
SamplesHG02081
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15023188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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