A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10050034



Internal ID4116548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:106444555..106454610hg38UCSC Ensembl
Innerchr1:106444555..106454610hg38UCSC Ensembl
Outerchr1:106444055..106455110hg38UCSC Ensembl
chr1:106987177..106997232hg19UCSC Ensembl
Innerchr1:106987177..106997232hg19UCSC Ensembl
Outerchr1:106986677..106997732hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3810056
hg1910056
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587096
Supporting Variants
SamplesHG03736
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10050034
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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