A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614720



Internal ID7001613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117651781..117666624hg38UCSC Ensembl
chr7:117291835..117306678hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3814844
hg1914844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12937385
SamplesNA20847
Known GenesCFTR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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