A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869518



Internal ID5992517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82496951..82502165hg38UCSC Ensembl
Innerchr7:82496951..82502165hg38UCSC Ensembl
Outerchr7:82496757..82502403hg38UCSC Ensembl
chr7:82126267..82131481hg19UCSC Ensembl
Innerchr7:82126267..82131481hg19UCSC Ensembl
Outerchr7:82126073..82131719hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385215
hg195215
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613909
Supporting Variants
SamplesNA19394
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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