A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659707



Internal ID9925812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:153747243..153752405hg38UCSC Ensembl
chr3:153465032..153470194hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg385163
hg195163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5484240, essv5396519, essv5863044, essv6504850, essv5489314, essv5819149, essv6263913, essv5780358, essv6340156
SamplesNA19701, NA19371, NA19462, NA19455, NA18907, NA19449, NA19468, NA18873, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659707
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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