A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614718



Internal ID7001611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117611442..117625114hg38UCSC Ensembl
chr7:117251496..117265168hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3813673
hg1913673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1325e214
Supporting Variantsessv12937375
SamplesHG02461
Known GenesCFTR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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