A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926481



Internal ID3677038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46727721..46732579hg38UCSC Ensembl
Innerchr1:46727721..46732579hg38UCSC Ensembl
Outerchr1:46727629..46732669hg38UCSC Ensembl
chr1:47193393..47198251hg19UCSC Ensembl
Innerchr1:47193393..47198251hg19UCSC Ensembl
Outerchr1:47193301..47198341hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384859
hg194859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585937
Supporting Variants
SamplesHG03279
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926481
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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