A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15345190



Internal ID5347006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:99708759..100311912hg38UCSC Ensembl
Innerchr15:99708909..100311762hg38UCSC Ensembl
Outerchr15:99708609..100312062hg38UCSC Ensembl
chr15:100248964..100852117hg19UCSC Ensembl
Innerchr15:100249114..100851967hg19UCSC Ensembl
Outerchr15:100248814..100852267hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38603154
hg19603154
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637430
Supporting Variants
SamplesHG02678
Known GenesADAMTS17, DNM1P46, LYSMD4, MEF2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15345190
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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