A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12930480



Internal ID3619550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112731918..112736981hg38UCSC Ensembl
Innerchr7:112731918..112736981hg38UCSC Ensembl
Outerchr7:112731418..112737481hg38UCSC Ensembl
chr7:112371973..112377036hg19UCSC Ensembl
Innerchr7:112371973..112377036hg19UCSC Ensembl
Outerchr7:112371473..112377536hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385064
hg195064
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614628
Supporting Variants
SamplesHG03212
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12930480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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