A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12046225



Internal ID2946335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124492086..124494354hg38UCSC Ensembl
Innerchr5:124492090..124494350hg38UCSC Ensembl
Outerchr5:124492082..124494358hg38UCSC Ensembl
chr5:123827779..123830047hg19UCSC Ensembl
Innerchr5:123827783..123830043hg19UCSC Ensembl
Outerchr5:123827775..123830051hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382269
hg192269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606631
Supporting Variants
SamplesHG02603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12046225
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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