A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12092779



Internal ID2094595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148457429..148470982hg38UCSC Ensembl
Innerchr5:148457429..148470982hg38UCSC Ensembl
Outerchr5:148456929..148471482hg38UCSC Ensembl
chr5:147836992..147850545hg19UCSC Ensembl
Innerchr5:147836992..147850545hg19UCSC Ensembl
Outerchr5:147836492..147851045hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3813554
hg1913554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607115
Supporting Variants
SamplesHG02266
Known GenesHTR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12092779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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