A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937369



Internal ID4600658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117513863..117562507hg38UCSC Ensembl
chr7:117153917..117202561hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3848645
hg1948645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614715
Supporting Variants
SamplesHG04131
Known GenesCFTR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937369
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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