A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675342



Internal ID9941447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182955108..182957446hg38UCSC Ensembl
Outerchr1:182955071..182957496hg38UCSC Ensembl
Innerchr1:182924243..182926581hg19UCSC Ensembl
Outerchr1:182924206..182926631hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382426
hg192426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6587178
SamplesHG01488
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675342
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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