A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1333e214



Internal ID18981508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146873137..146891715hg38UCSC Ensembl
chr7:146570229..146588807hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3818579
hg1918579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3615388, esv3615389
SamplesHG01708, HG01308
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1333e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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