A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591954



Internal ID6979282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110096262..110194743hg38UCSC Ensembl
chr2:110853839..110952320hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3898482
hg1998482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv728e214
Supporting Variantsessv10615229, essv10615217, essv10615206, essv10615211, essv10615208, essv10615205, essv10615204, essv10615200, essv10615214, essv10615203, essv10615220, essv10615212, essv10615222, essv10615223, essv10615202, essv10615210, essv10615224, essv10615221, essv10615231, essv10615215, essv10615218, essv10615207, essv10615201, essv10615228, essv10615209, essv10615226, essv10615230, essv10615219, essv10615225, essv10615213, essv10615216, essv10615227
SamplesHG03812, HG04222, HG01815, HG03607, HG04076, HG01944, HG03950, HG00337, NA19068, HG03736, HG01843, HG00851, NA20278, NA18966, HG03693, HG02180, HG02513, HG01879, HG04235, NA19042, NA18553, HG01915, HG00638, HG03702, NA18629, HG03870, HG02371, HG02373, HG02079, HG04098, NA20758, NA20827
Known GenesMALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591954
Frequency
Sample Size2504
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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