A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5772020



Internal ID8749423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130817185..130820685hg38UCSC Ensembl
Outerchr7:130817028..130820838hg38UCSC Ensembl
Innerchr7:130501944..130505444hg19UCSC Ensembl
Outerchr7:130501787..130505597hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383811
hg193811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670433
Supporting Variants
SamplesNA12342
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5772020
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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