A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10168289



Internal ID3305451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161027689..161029272hg38UCSC Ensembl
Innerchr1:161027694..161029267hg38UCSC Ensembl
Outerchr1:161027684..161029277hg38UCSC Ensembl
chr1:160997479..160999062hg19UCSC Ensembl
Innerchr1:160997484..160999057hg19UCSC Ensembl
Outerchr1:160997474..160999067hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381584
hg191584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587724
Supporting Variants
SamplesHG02944
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10168289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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