A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673400



Internal ID9939505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52559641..52561529hg38UCSC Ensembl
Outerchr1:52559604..52561579hg38UCSC Ensembl
Innerchr1:53025313..53027201hg19UCSC Ensembl
Outerchr1:53025276..53027251hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381976
hg191976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5877434, essv6243505
SamplesNA20812, HG01176
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673400
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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