A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15231663



Internal ID962098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43945975..43954204hg38UCSC Ensembl
Innerchr15:43946025..43954154hg38UCSC Ensembl
Outerchr15:43945871..43954308hg38UCSC Ensembl
chr15:44238173..44246402hg19UCSC Ensembl
Innerchr15:44238223..44246352hg19UCSC Ensembl
Outerchr15:44238069..44246506hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg388230
hg198230
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636301
Supporting Variants
SamplesHG00592
Known GenesFRMD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15231663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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