A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10008375



Internal ID5637113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86752692..86765531hg38UCSC Ensembl
Innerchr1:86752700..86765524hg38UCSC Ensembl
Outerchr1:86752685..86765539hg38UCSC Ensembl
chr1:87218375..87231214hg19UCSC Ensembl
Innerchr1:87218383..87231207hg19UCSC Ensembl
Outerchr1:87218368..87231222hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3812840
hg1912840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586707
Supporting Variants
SamplesNA19060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10008375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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