A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5673691



Internal ID8651094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80849273..80849458hg38UCSC Ensembl
chr7:80478589..80478774hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673014
Supporting Variants
SamplesHG00707
Known GenesSEMA3C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5673691
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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