A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14937135



Internal ID2382974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23494841..23497104hg38UCSC Ensembl
Innerchr14:23494850..23497095hg38UCSC Ensembl
Outerchr14:23494832..23497113hg38UCSC Ensembl
chr14:23964050..23966313hg19UCSC Ensembl
Innerchr14:23964059..23966304hg19UCSC Ensembl
Outerchr14:23964041..23966322hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382264
hg192264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633778
Supporting Variants
SamplesHG02111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14937135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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