A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12766473



Internal ID4018058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49360026..49368544hg38UCSC Ensembl
Innerchr7:49360046..49368524hg38UCSC Ensembl
Outerchr7:49360006..49368564hg38UCSC Ensembl
chr7:49399622..49408140hg19UCSC Ensembl
Innerchr7:49399642..49408120hg19UCSC Ensembl
Outerchr7:49399602..49408160hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg388519
hg198519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613108
Supporting Variants
SamplesHG03672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12766473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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