A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12908641



Internal ID2985138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99863718..99865907hg38UCSC Ensembl
Innerchr7:99863724..99865901hg38UCSC Ensembl
Outerchr7:99863712..99865913hg38UCSC Ensembl
chr7:99461341..99463530hg19UCSC Ensembl
Innerchr7:99461347..99463524hg19UCSC Ensembl
Outerchr7:99461335..99463536hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382190
hg192190
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614285
Supporting Variants
SamplesHG02635
Known GenesCYP3A43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12908641
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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