A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430749



Internal ID14931019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103380569..103382167hg38UCSC Ensembl
Innerchr7:103381167..103381569hg38UCSC Ensembl
Outerchr7:103379569..103383167hg38UCSC Ensembl
chr7:103021016..103022614hg19UCSC Ensembl
Innerchr7:103021614..103022016hg19UCSC Ensembl
Outerchr7:103020016..103023614hg19UCSC Ensembl
chr7:102808252..102809850hg18UCSC Ensembl
Innerchr7:102809252..102808850hg18UCSC Ensembl
Outerchr7:102807252..102810850hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3912e59
Supporting Variantsessv8695470
SamplesNA19239
Known GenesSLC26A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430749
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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