A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611974



Internal ID6998876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5473597..5477581hg38UCSC Ensembl
Innerchr7:5473641..5477537hg38UCSC Ensembl
Outerchr7:5473553..5477625hg38UCSC Ensembl
chr7:5513228..5517212hg19UCSC Ensembl
Innerchr7:5513272..5517168hg19UCSC Ensembl
Outerchr7:5513184..5517256hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg383985
hg193985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12671676
SamplesNA21108
Known GenesFBXL18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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