A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588517



Internal ID6975934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198267103..198335008hg38UCSC Ensembl
Innerchr1:198267103..198335008hg38UCSC Ensembl
Outerchr1:198266603..198335508hg38UCSC Ensembl
chr1:198236233..198304138hg19UCSC Ensembl
Innerchr1:198236233..198304138hg19UCSC Ensembl
Outerchr1:198235733..198304638hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3867906
hg1967906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10256599
SamplesHG02012
Known GenesNEK7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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