A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12917379



Internal ID3408100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106177867..106184000hg38UCSC Ensembl
Innerchr7:106177879..106183989hg38UCSC Ensembl
Outerchr7:106177856..106184012hg38UCSC Ensembl
chr7:105818313..105824446hg19UCSC Ensembl
Innerchr7:105818325..105824435hg19UCSC Ensembl
Outerchr7:105818302..105824458hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg386134
hg196134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614439
Supporting Variants
SamplesHG03054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12917379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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