A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893538



Internal ID18837672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206123849..206133326hg38UCSC Ensembl
Outerchr2:206115621..206147759hg38UCSC Ensembl
Innerchr2:206988573..206998050hg19UCSC Ensembl
Outerchr2:206980345..207012483hg19UCSC Ensembl
Innerchr2:206696818..206706295hg18UCSC Ensembl
Outerchr2:206688590..206720728hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3832139
hg1932139
hg1832139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783835, essv25784843, essv25780873, essv25784952
Samples
Known GenesGCSHP3, NDUFS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893538
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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