A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14969801



Internal ID4243560
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634080
Supporting Variants
SamplesHG03815
Known GenesMIR4503, SLC25A21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14969801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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