A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15231668



Internal ID709374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:44131359..44148649hg38UCSC Ensembl
Innerchr15:44131371..44148638hg38UCSC Ensembl
Outerchr15:44131348..44148661hg38UCSC Ensembl
chr15:44423557..44440847hg19UCSC Ensembl
Innerchr15:44423569..44440836hg19UCSC Ensembl
Outerchr15:44423546..44440859hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3817291
hg1917291
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636304
Supporting Variants
SamplesHG00332
Known GenesFRMD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15231668
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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