A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925477



Internal ID4423287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44732845..44738466hg38UCSC Ensembl
Innerchr1:44732895..44738416hg38UCSC Ensembl
Outerchr1:44732787..44738524hg38UCSC Ensembl
chr1:45198517..45204138hg19UCSC Ensembl
Innerchr1:45198567..45204088hg19UCSC Ensembl
Outerchr1:45198459..45204196hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385622
hg195622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585892
Supporting Variants
SamplesHG03940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925477
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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