A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674731



Internal ID9594150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184410592..184415767hg38UCSC Ensembl
chr1:184379726..184384901hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385176
hg195176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6055469
SamplesHG01488
Known GenesC1orf21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674731
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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