A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591956



Internal ID6632240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110106453..110129423hg38UCSC Ensembl
chr2:110864030..110887000hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3822971
hg1922971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10615257, essv10615244, essv10615265, essv10615262, essv10615260, essv10615245, essv10615254, essv10615264, essv10615243, essv10615252, essv10615255, essv10615251, essv10615267, essv10615256, essv10615246, essv10615249, essv10615248, essv10615258, essv10615263, essv10615261, essv10615259, essv10615266, essv10615247, essv10615253, essv10615250, essv10615268
SamplesHG02371, NA18966, HG03693, HG02513, HG01915, HG03812, HG01843, HG04098, HG03736, HG00337, NA19068, HG00638, HG02373, HG01815, HG01879, HG04222, NA19042, HG00851, HG02180, HG04235, NA20827, HG03702, HG02079, HG03607, HG03950, NA18629
Known GenesMALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591956
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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