A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540611



Internal ID18741687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150411290..150411562hg38UCSC Ensembl
Outerchr1:150411232..150411641hg38UCSC Ensembl
Innerchr1:150383766..150384038hg19UCSC Ensembl
Outerchr1:150383708..150384117hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739358
Samples
Known GenesRPRD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540611
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