A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560948



Internal ID18762024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37900397..37900897hg38UCSC Ensembl
Outerchr1:37900340..37901003hg38UCSC Ensembl
Innerchr1:38366069..38366569hg19UCSC Ensembl
Outerchr1:38366012..38366675hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759695
Samples
Known GenesINPP5B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560948
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