A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894123



Internal ID18838506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147766386..147903855hg38UCSC Ensembl
Outerchr1:147766386..147903855hg38UCSC Ensembl
Innerchr1:147238486..147375981hg19UCSC Ensembl
Outerchr1:147238486..147375981hg19UCSC Ensembl
Innerchr1:145705110..145842605hg18UCSC Ensembl
Outerchr1:145705110..145842605hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38137470
hg19137496
hg18137496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791318
Samples
Known GenesGJA5, GJA8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894123
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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