A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673140



Internal ID14685713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30970438..30970458hg38UCSC Ensembl
Innerchr15:30970442..30970452hg38UCSC Ensembl
Outerchr15:30970422..30970472hg38UCSC Ensembl
chr15:31262641..31262661hg19UCSC Ensembl
Innerchr15:31262645..31262655hg19UCSC Ensembl
Outerchr15:31262625..31262675hg19UCSC Ensembl
chr15:29049933..29049953hg18UCSC Ensembl
Innerchr15:29049947..29049937hg18UCSC Ensembl
Outerchr15:29049917..29049967hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329471
Supporting Variants
SamplesNA19238
Known GenesMTMR10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673140
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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