A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3e201



Internal ID22759361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7498707..7499388hg38UCSC Ensembl
chr1:7558767..7559448hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741583, esv2741806
SamplesSSM024, SSM069, SSM019, SSM015, SSM022
Known GenesCAMTA1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv3e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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