A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6198621



Internal ID9176024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54626600..54630293hg38UCSC Ensembl
chr1:55092273..55095966hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383694
hg193694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662697
Supporting Variants
SamplesHG01461
Known GenesACOT11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6198621
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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