A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005292



Internal ID5098231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49927394..49938323hg38UCSC Ensembl
Innerchr14:49927444..49938273hg38UCSC Ensembl
Outerchr14:49927304..49938413hg38UCSC Ensembl
chr14:50394112..50405041hg19UCSC Ensembl
Innerchr14:50394162..50404991hg19UCSC Ensembl
Outerchr14:50394022..50405131hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3810930
hg1910930
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634472
Supporting Variants
SamplesNA18552
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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