A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563538



Internal ID18417928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68128842..68129037hg38UCSC Ensembl
Outerchr1:68128825..68129048hg38UCSC Ensembl
Innerchr1:68594525..68594720hg19UCSC Ensembl
Outerchr1:68594508..68594731hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762285
Samples
Known GenesGNG12-AS1, WLS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563538
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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