A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614284



Internal ID7001179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99854025..99864973hg38UCSC Ensembl
Innerchr7:99854025..99864973hg38UCSC Ensembl
Outerchr7:99853525..99865473hg38UCSC Ensembl
chr7:99451648..99462596hg19UCSC Ensembl
Innerchr7:99451648..99462596hg19UCSC Ensembl
Outerchr7:99451148..99463096hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3810949
hg1910949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12908560
SamplesHG02449
Known GenesCYP3A43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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