A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586814



Internal ID6627123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92687205..92688708hg38UCSC Ensembl
Innerchr1:92687255..92688658hg38UCSC Ensembl
Outerchr1:92687155..92688758hg38UCSC Ensembl
chr1:93152762..93154265hg19UCSC Ensembl
Innerchr1:93152812..93154215hg19UCSC Ensembl
Outerchr1:93152712..93154315hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381504
hg191504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10017120
SamplesNA12872
Known GenesEVI5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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