A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589982



Internal ID6977310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19376395..19385732hg38UCSC Ensembl
Innerchr2:19376395..19385732hg38UCSC Ensembl
Outerchr2:19376355..19385777hg38UCSC Ensembl
chr2:19576156..19585493hg19UCSC Ensembl
Innerchr2:19576156..19585493hg19UCSC Ensembl
Outerchr2:19576116..19585538hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg389338
hg199338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10423291, essv10423289, essv10423283, essv10423281, essv10423290, essv10423282, essv10423299, essv10423285, essv10423298, essv10423278, essv10423288, essv10423297, essv10423277, essv10423292, essv10423296, essv10423284, essv10423279, essv10423286, essv10423287, essv10423293, essv10423294, essv10423295, essv10423280
SamplesNA20511, HG02386, HG02002, HG03237, HG00358, NA18627, NA20798, HG01167, NA18619, NA18558, NA19087, HG00406, HG01595, NA18976, HG03752, NA18945, HG01800, HG00342, NA21133, NA21101, NA19080, HG00472, NA18957
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589982
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer