A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10032559



Internal ID4635709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100853154..100854653hg38UCSC Ensembl
Innerchr1:100853187..100854620hg38UCSC Ensembl
Outerchr1:100853121..100854686hg38UCSC Ensembl
chr1:101318710..101320209hg19UCSC Ensembl
Innerchr1:101318743..101320176hg19UCSC Ensembl
Outerchr1:101318677..101320242hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586955
Supporting Variants
SamplesHG04164
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10032559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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