A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937368



Internal ID1688471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117452138..117507710hg38UCSC Ensembl
Innerchr7:117452138..117507710hg38UCSC Ensembl
Outerchr7:117451638..117508210hg38UCSC Ensembl
chr7:117092192..117147764hg19UCSC Ensembl
Innerchr7:117092192..117147764hg19UCSC Ensembl
Outerchr7:117091692..117148264hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3855573
hg1955573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614714
Supporting Variants
SamplesHG01565
Known GenesCFTR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937368
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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