A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1325e214



Internal ID22757219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117608683..117625114hg38UCSC Ensembl
chr7:117248737..117265168hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3816432
hg1916432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3614717, esv3614718
SamplesHG02461, HG01565
Known GenesCFTR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1325e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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