A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607164



Internal ID6994099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150652608..150670289hg38UCSC Ensembl
Innerchr5:150652758..150670139hg38UCSC Ensembl
Outerchr5:150652458..150670439hg38UCSC Ensembl
chr5:150032170..150049851hg19UCSC Ensembl
Innerchr5:150032320..150049701hg19UCSC Ensembl
Outerchr5:150032020..150050001hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3817682
hg1917682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1148e214
Supporting Variantsessv12095963
SamplesNA20588
Known GenesMYOZ3, SYNPO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607164
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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