A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12092661



Internal ID2094477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148228877..148230111hg38UCSC Ensembl
Innerchr5:148228877..148230111hg38UCSC Ensembl
Outerchr5:148228728..148230259hg38UCSC Ensembl
chr5:147608440..147609674hg19UCSC Ensembl
Innerchr5:147608440..147609674hg19UCSC Ensembl
Outerchr5:147608291..147609822hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607108
Supporting Variants
SamplesHG01136
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12092661
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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