A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756589



Internal ID5093367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43853857..43856415hg38UCSC Ensembl
Innerchr7:43853857..43856415hg38UCSC Ensembl
Outerchr7:43853519..43856739hg38UCSC Ensembl
chr7:43893456..43896014hg19UCSC Ensembl
Innerchr7:43893456..43896014hg19UCSC Ensembl
Outerchr7:43893118..43896338hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382559
hg192559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613003
Supporting Variants
SamplesNA18549
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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