A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590462



Internal ID6977791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40537667..40544888hg38UCSC Ensembl
Innerchr2:40537668..40544887hg38UCSC Ensembl
Outerchr2:40537666..40544889hg38UCSC Ensembl
chr2:40764807..40772028hg19UCSC Ensembl
Innerchr2:40764808..40772027hg19UCSC Ensembl
Outerchr2:40764806..40772029hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg387222
hg197222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10472118, essv10472115, essv10472126, essv10472119, essv10472120, essv10472124, essv10472114, essv10472111, essv10472116, essv10472117, essv10472123, essv10472128, essv10472125, essv10472121, essv10472113, essv10472127, essv10472112, essv10472122
SamplesHG03548, HG03298, HG03069, HG03556, NA20340, NA19207, HG03058, HG02477, NA20318, HG01889, HG03078, NA19338, HG03391, HG03117, HG03442, HG03351, NA19102, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590462
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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