A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12912134



Internal ID4967109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102865730..102868532hg38UCSC Ensembl
Innerchr7:102865754..102868509hg38UCSC Ensembl
Outerchr7:102865707..102868556hg38UCSC Ensembl
chr7:102506177..102508979hg19UCSC Ensembl
Innerchr7:102506201..102508956hg19UCSC Ensembl
Outerchr7:102506154..102509003hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382803
hg192803
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614361
Supporting Variants
SamplesNA12872
Known GenesFBXL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12912134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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