A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672481



Internal ID9938586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160962483..160968220hg38UCSC Ensembl
chr3:160680271..160686008hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg385738
hg195738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6366596, essv5534087, essv6057267, essv5992120, essv6195806, essv6294040
SamplesNA19664, HG00641, HG00637, NA12489, HG01095, NA07000
Known GenesPPM1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672481
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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