A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587660



Internal ID6627961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158016337..158019360hg38UCSC Ensembl
Innerchr1:158016337..158019360hg38UCSC Ensembl
Outerchr1:158015837..158019860hg38UCSC Ensembl
chr1:157986127..157989150hg19UCSC Ensembl
Innerchr1:157986127..157989150hg19UCSC Ensembl
Outerchr1:157985627..157989650hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383024
hg193024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10157913, essv10157912
SamplesHG01345, HG01148
Known GenesKIRREL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587660
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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