A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613039



Internal ID6999937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46316383..46322800hg38UCSC Ensembl
Innerchr7:46316384..46322800hg38UCSC Ensembl
Outerchr7:46316383..46322801hg38UCSC Ensembl
chr7:46355981..46362398hg19UCSC Ensembl
Innerchr7:46355982..46362398hg19UCSC Ensembl
Outerchr7:46355981..46362399hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg386418
hg196418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758361, essv12758359, essv12758362, essv12758356, essv12758358, essv12758354, essv12758363, essv12758360, essv12758357, essv12758355
SamplesHG02072, HG00729, HG00422, NA18645, NA18538, NA18976, HG02141, NA18564, HG02401, HG00698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613039
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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