A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791629



Internal ID18828227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110116029..110200752hg38UCSC Ensembl
Innerchr2:110873606..110958329hg19UCSC Ensembl
Innerchr2:110230895..110315618hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3884724
hg1984724
hg1884724
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893070
Supporting Variants
Samples
Known GenesMALL, NPHP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791629
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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