A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611975



Internal ID6998877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5492377..5493877hg38UCSC Ensembl
Innerchr7:5492434..5493820hg38UCSC Ensembl
Outerchr7:5492320..5493934hg38UCSC Ensembl
chr7:5532008..5533508hg19UCSC Ensembl
Innerchr7:5532065..5533451hg19UCSC Ensembl
Outerchr7:5531951..5533565hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12671680, essv12671677, essv12671678, essv12671679
SamplesNA18976, HG00525, NA19009, HG00978
Known GenesFBXL18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611975
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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