A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612512



Internal ID6999413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22103215..22505136hg38UCSC Ensembl
Innerchr7:22103276..22505076hg38UCSC Ensembl
Outerchr7:22103155..22505197hg38UCSC Ensembl
chr7:22142833..22544755hg19UCSC Ensembl
Innerchr7:22142894..22544695hg19UCSC Ensembl
Outerchr7:22142773..22544816hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38401922
hg19401923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12694175
SamplesHG00689
Known GenesRAPGEF5, STEAP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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