A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6167190



Internal ID9144593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243262053..243262349hg38UCSC Ensembl
chr1:243425355..243425651hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675259
Supporting Variants
SamplesHG00338
Known GenesSDCCAG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6167190
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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