A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672620



Internal ID9938725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196908686..196916142hg38UCSC Ensembl
Outerchr1:196908315..196916512hg38UCSC Ensembl
Innerchr1:196877816..196885272hg19UCSC Ensembl
Outerchr1:196877445..196885642hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg388198
hg198198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6513309, essv5640143, essv5406783, essv5813799, essv5781684, essv6528751, essv6410653
SamplesNA18526, NA18563, NA18597, NA18635, NA18611, NA18634, NA18549
Known GenesCFHR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672620
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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