A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10008302



Internal ID4395170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86611375..86627254hg38UCSC Ensembl
Innerchr1:86611525..86627104hg38UCSC Ensembl
Outerchr1:86611225..86627404hg38UCSC Ensembl
chr1:87077058..87092937hg19UCSC Ensembl
Innerchr1:87077208..87092787hg19UCSC Ensembl
Outerchr1:87076908..87093087hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3815880
hg1915880
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586703
Supporting Variants
SamplesHG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10008302
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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