A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8969407



Internal ID13305488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:93023925..93023941hg38UCSC Ensembl
Innerchr15:93023923..93023941hg38UCSC Ensembl
Outerchr15:93023907..93023959hg38UCSC Ensembl
chr15:93567155..93567171hg19UCSC Ensembl
Innerchr15:93567153..93567171hg19UCSC Ensembl
Outerchr15:93567137..93567189hg19UCSC Ensembl
chr15:91368159..91368175hg18UCSC Ensembl
Innerchr15:91368175..91368157hg18UCSC Ensembl
Outerchr15:91368141..91368193hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343910
Supporting Variants
SamplesNA12004
Known GenesCHD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8969407
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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