A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614634



Internal ID7001527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112846381..112851801hg38UCSC Ensembl
Innerchr7:112846383..112851800hg38UCSC Ensembl
Outerchr7:112846380..112851803hg38UCSC Ensembl
chr7:112486436..112491856hg19UCSC Ensembl
Innerchr7:112486438..112491855hg19UCSC Ensembl
Outerchr7:112486435..112491858hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385421
hg195421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12931087, essv12931088
SamplesHG02250, HG02408
Known GenesC7orf60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614634
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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