A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671282



Internal ID9937387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185447219..185449469hg38UCSC Ensembl
chr1:185416351..185418601hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382251
hg192251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6551206, essv6424510, essv6298741, essv6408207, essv5941754, essv5743604, essv5540405
SamplesNA20531, NA20589, HG00247, HG00263, HG00740, NA12546, NA19679
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671282
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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