A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591757



Internal ID6979085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100603907..100611849hg38UCSC Ensembl
Innerchr2:100603907..100611849hg38UCSC Ensembl
Outerchr2:100603675..100612024hg38UCSC Ensembl
chr2:101220369..101228311hg19UCSC Ensembl
Innerchr2:101220369..101228311hg19UCSC Ensembl
Outerchr2:101220137..101228486hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387943
hg197943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597255, essv10597257, essv10597253, essv10597259, essv10597260, essv10597254, essv10597256, essv10597258
SamplesHG03229, HG03836, HG03937, HG03624, HG03902, HG03940, HG04200, HG04090
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591757
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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