A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6322520



Internal ID9118298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45992108..45996092hg38UCSC Ensembl
chr1:46457780..46461764hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383985
hg193985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663245
Supporting Variants
SamplesHG01125
Known GenesMAST2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6322520
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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