A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369732



Internal ID15216708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131654130..131654146hg38UCSC Ensembl
Innerchr7:131654129..131654147hg38UCSC Ensembl
Outerchr7:131654080..131654196hg38UCSC Ensembl
chr7:131338889..131338905hg19UCSC Ensembl
Innerchr7:131338888..131338906hg19UCSC Ensembl
Outerchr7:131338839..131338955hg19UCSC Ensembl
chr7:130989429..130989445hg18UCSC Ensembl
Innerchr7:130989446..130989428hg18UCSC Ensembl
Outerchr7:130989379..130989495hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741270
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369732
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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