A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094492



Internal ID2559218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149447802..149470841hg38UCSC Ensembl
Innerchr5:149447952..149470691hg38UCSC Ensembl
Outerchr5:149447652..149470991hg38UCSC Ensembl
chr5:148827365..148850404hg19UCSC Ensembl
Innerchr5:148827515..148850254hg19UCSC Ensembl
Outerchr5:148827215..148850554hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3823040
hg1923040
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607141
Supporting Variants
SamplesHG02272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094492
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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