A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972734



Internal ID4504431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132016197..132018390hg38UCSC Ensembl
Innerchr7:132016209..132018378hg38UCSC Ensembl
Outerchr7:132016185..132018402hg38UCSC Ensembl
chr7:131700956..131703149hg19UCSC Ensembl
Innerchr7:131700968..131703137hg19UCSC Ensembl
Outerchr7:131700944..131703161hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg382194
hg192194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615052
Supporting Variants
SamplesHG04002
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972734
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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