A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916967



Internal ID543564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40602786..40619067hg38UCSC Ensembl
Innerchr1:40602798..40619055hg38UCSC Ensembl
Outerchr1:40602774..40619079hg38UCSC Ensembl
chr1:41068458..41084739hg19UCSC Ensembl
Innerchr1:41068470..41084727hg19UCSC Ensembl
Outerchr1:41068446..41084751hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3816282
hg1916282
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585811
Supporting Variants
SamplesHG00237
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916967
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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