A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6341338



Internal ID9380268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129453..53129931hg38UCSC Ensembl
chr1:53595125..53595603hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672076
Supporting Variants
SamplesNA18572
Known GenesSLC1A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6341338
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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