A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15004517



Internal ID3956315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47760457..47808450hg38UCSC Ensembl
Innerchr14:47760957..47807950hg38UCSC Ensembl
Outerchr14:47759457..47809450hg38UCSC Ensembl
chr14:48229660..48277653hg19UCSC Ensembl
Innerchr14:48230160..48277153hg19UCSC Ensembl
Outerchr14:48228660..48278653hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3847994
hg1947994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634417
Supporting Variants
SamplesHG03607
Known GenesLINC00648, MIR548Y
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15004517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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