A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612442



Internal ID6999343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:18000779..18036019hg38UCSC Ensembl
Innerchr7:18000779..18036019hg38UCSC Ensembl
Outerchr7:18000279..18036519hg38UCSC Ensembl
chr7:18040402..18075642hg19UCSC Ensembl
Innerchr7:18040402..18075642hg19UCSC Ensembl
Outerchr7:18039902..18076142hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3835241
hg1935241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12691069
SamplesHG03991
Known GenesPRPS1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612442
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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