A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916179



Internal ID3455867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39598113..39598986hg38UCSC Ensembl
Innerchr1:39598178..39598922hg38UCSC Ensembl
Outerchr1:39598049..39599051hg38UCSC Ensembl
chr1:40063785..40064658hg19UCSC Ensembl
Innerchr1:40063850..40064594hg19UCSC Ensembl
Outerchr1:40063721..40064723hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585791
Supporting Variants
SamplesHG03079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916179
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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