A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10041419



Internal ID43235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104125584..104160257hg38UCSC Ensembl
Innerchr1:104125628..104160213hg38UCSC Ensembl
Outerchr1:104125540..104160301hg38UCSC Ensembl
chr1:104668206..104702879hg19UCSC Ensembl
Innerchr1:104668250..104702835hg19UCSC Ensembl
Outerchr1:104668162..104702923hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3834674
hg1934674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587028
Supporting Variants
SamplesNA19089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10041419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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