A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12912137



Internal ID5072943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102868845..102869794hg38UCSC Ensembl
Innerchr7:102868845..102869794hg38UCSC Ensembl
Outerchr7:102868694..102869910hg38UCSC Ensembl
chr7:102509292..102510241hg19UCSC Ensembl
Innerchr7:102509292..102510241hg19UCSC Ensembl
Outerchr7:102509141..102510357hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614362
Supporting Variants
SamplesNA18541
Known GenesFBXL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12912137
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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