A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10019275



Internal ID21091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92719092..92720497hg38UCSC Ensembl
Innerchr1:92719093..92720497hg38UCSC Ensembl
Outerchr1:92719092..92720498hg38UCSC Ensembl
chr1:93184649..93186054hg19UCSC Ensembl
Innerchr1:93184650..93186054hg19UCSC Ensembl
Outerchr1:93184649..93186055hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586816
Supporting Variants
SamplesNA19137
Known GenesEVI5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10019275
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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