A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634080



Internal ID7020884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36949060..36952824hg38UCSC Ensembl
Innerchr14:36949060..36952824hg38UCSC Ensembl
Outerchr14:36948978..36952925hg38UCSC Ensembl
chr14:37418265..37422029hg19UCSC Ensembl
Innerchr14:37418265..37422029hg19UCSC Ensembl
Outerchr14:37418183..37422130hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg383765
hg193765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14969800, essv14969801
SamplesHG03615, HG03815
Known GenesMIR4503, SLC25A21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634080
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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