A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669916



Internal ID9589335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52951381..52954091hg38UCSC Ensembl
chr1:53417053..53419763hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382711
hg192711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6171738, essv5813516, essv5941799
SamplesHG01174, HG00125, NA19684
Known GenesSCP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669916
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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