A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669448



Internal ID9935553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191228403..191231899hg38UCSC Ensembl
chr1:191197533..191201029hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg383497
hg193497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5716581, essv5986888, essv6267165, essv5675692, essv6320605, essv6481514, essv5616578, essv6127379, essv6441674, essv5725400, essv5595824
SamplesHG01461, HG01140, HG01351, HG01168, HG01124, HG00740, HG01197, HG01357, HG01137, HG01342, HG01377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669448
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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