A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5487179



Internal ID9182678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11601171..11603216hg38UCSC Ensembl
Outerchr7:11601134..11603266hg38UCSC Ensembl
Innerchr7:11640798..11642843hg19UCSC Ensembl
Outerchr7:11640761..11642893hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382133
hg192133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663598
Supporting Variants
SamplesHG01440
Known GenesTHSD7A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5487179
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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