A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303008



Internal ID14803270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52523967..52524860hg38UCSC Ensembl
Innerchr15:52524067..52524760hg38UCSC Ensembl
Outerchr15:52523867..52524960hg38UCSC Ensembl
chr15:52816164..52817057hg19UCSC Ensembl
Innerchr15:52816264..52816957hg19UCSC Ensembl
Outerchr15:52816064..52817157hg19UCSC Ensembl
chr15:50603456..50604349hg18UCSC Ensembl
Innerchr15:50603556..50604249hg18UCSC Ensembl
Outerchr15:50603356..50604449hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38894
hg19894
hg18894
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733548, essv7734312, essv7738375, essv7733524, essv7736349, essv7738745, essv7736617, essv7736448, essv7737106, essv7737806, essv7733579, essv7738810, essv7735084, essv7732965, essv7737906
SamplesNA07347, NA18516, NA18573, NA18542, NA18508, NA18566, NA18856, NA11831, NA18593, NA07346, NA18537, NA06986, NA12003, NA12717, NA18555
Known GenesMYO5A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303008
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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