A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5834508



Internal ID8973520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314405..147315503hg38UCSC Ensembl
chr7:147011497..147012595hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659353
Supporting Variants
SamplesHG00553
Known GenesCNTNAP2, MIR548I4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5834508
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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