A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5506035



Internal ID8759676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89443328..90185761hg38UCSC Ensembl
Outerchr7:89443294..90185796hg38UCSC Ensembl
Innerchr7:89072642..89815075hg19UCSC Ensembl
Outerchr7:89072608..89815110hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38742503
hg19742503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668491
Supporting Variants
SamplesHG00150
Known GenesDPY19L2P4, STEAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5506035
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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