A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671774



Internal ID9937879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207148661..207173947hg38UCSC Ensembl
chr1:207322006..207347292hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3825287
hg1925287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6523774
SamplesNA19428
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671774
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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