A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634844



Internal ID7021644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69813550..69815769hg38UCSC Ensembl
Innerchr14:69813572..69815748hg38UCSC Ensembl
Outerchr14:69813529..69815791hg38UCSC Ensembl
chr14:70280267..70282486hg19UCSC Ensembl
Innerchr14:70280289..70282465hg19UCSC Ensembl
Outerchr14:70280246..70282508hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15052460, essv15052462, essv15052459, essv15052461, essv15052463
SamplesHG03100, NA18870, HG01889, HG03117, HG02317
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634844
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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