A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5796012



Internal ID8995009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43945959..43954158hg38UCSC Ensembl
Outerchr15:43945922..43954208hg38UCSC Ensembl
Innerchr15:44238157..44246356hg19UCSC Ensembl
Outerchr15:44238120..44246406hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg388287
hg198287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676192
Supporting Variants
SamplesHG00592
Known GenesFRMD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5796012
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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