A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12875223



Internal ID4552267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84763979..84825677hg38UCSC Ensembl
Innerchr7:84763979..84825677hg38UCSC Ensembl
Outerchr7:84763479..84826177hg38UCSC Ensembl
chr7:84393295..84454993hg19UCSC Ensembl
Innerchr7:84393295..84454993hg19UCSC Ensembl
Outerchr7:84392795..84455493hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3861699
hg1961699
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613972
Supporting Variants
SamplesHG04054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12875223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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