A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10017118



Internal ID18934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92572537..92576187hg38UCSC Ensembl
Innerchr1:92572566..92576158hg38UCSC Ensembl
Outerchr1:92572508..92576216hg38UCSC Ensembl
chr1:93038094..93041744hg19UCSC Ensembl
Innerchr1:93038123..93041715hg19UCSC Ensembl
Outerchr1:93038065..93041773hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383651
hg193651
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586812
Supporting Variants
SamplesHG01095
Known GenesEVI5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10017118
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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