A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10019279



Internal ID21095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92722301..92727514hg38UCSC Ensembl
Innerchr1:92722316..92727500hg38UCSC Ensembl
Outerchr1:92722287..92727529hg38UCSC Ensembl
chr1:93187858..93193071hg19UCSC Ensembl
Innerchr1:93187873..93193057hg19UCSC Ensembl
Outerchr1:93187844..93193086hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg385214
hg195214
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586817
Supporting Variants
SamplesNA18634
Known GenesEVI5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10019279
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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