A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15080053



Internal ID6176287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81663076..81706450hg38UCSC Ensembl
Innerchr14:81663088..81706438hg38UCSC Ensembl
Outerchr14:81663064..81706462hg38UCSC Ensembl
chr14:82129420..82172794hg19UCSC Ensembl
Innerchr14:82129432..82172782hg19UCSC Ensembl
Outerchr14:82129408..82172806hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3843375
hg1943375
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635092
Supporting Variants
SamplesNA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15080053
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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