A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780873



Internal ID18821796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206115621..206133326hg38UCSC Ensembl
Innerchr2:206980345..206998050hg19UCSC Ensembl
Innerchr2:206688590..206706295hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3817706
hg1917706
hg1817706
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893538
Supporting Variants
Samples
Known GenesGCSHP3, NDUFS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780873
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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