A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10049667



Internal ID2713542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105538186..105592159hg38UCSC Ensembl
Innerchr1:105538186..105592159hg38UCSC Ensembl
Outerchr1:105537686..105592659hg38UCSC Ensembl
chr1:106080808..106134781hg19UCSC Ensembl
Innerchr1:106080808..106134781hg19UCSC Ensembl
Outerchr1:106080308..106135281hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3853974
hg1953974
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587076
Supporting Variants
SamplesHG02394
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10049667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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