A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6393001



Internal ID9004649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241192069..241207612hg38UCSC Ensembl
chr1:241355369..241370912hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815544
hg1915544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663733
Supporting Variants
SamplesHG00611
Known GenesRGS7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6393001
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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