A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5728270



Internal ID9024078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7412179..7413555hg38UCSC Ensembl
chr7:7451810..7453186hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677948
Supporting Variants
SamplesHG00650
Known GenesCOL28A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5728270
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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