A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591955



Internal ID6632239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110106453..110129423hg38UCSC Ensembl
chr2:110864030..110887000hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3822971
hg1922971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10615240, essv10615242, essv10615236, essv10615239, essv10615234, essv10615232, essv10615241, essv10615235, essv10615238, essv10615237, essv10615233
SamplesHG01896, HG01075, HG00127, NA18627, NA20348, HG00732, HG00255, NA18558, HG04162, HG00120, HG03388
Known GenesMALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591955
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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