A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695471



Internal ID15019135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103380669..103382067hg38UCSC Ensembl
Innerchr7:103381067..103381669hg38UCSC Ensembl
Outerchr7:103379669..103383067hg38UCSC Ensembl
chr7:103021116..103022514hg19UCSC Ensembl
Innerchr7:103021514..103022116hg19UCSC Ensembl
Outerchr7:103020116..103023514hg19UCSC Ensembl
chr7:102808352..102809750hg18UCSC Ensembl
Innerchr7:102809352..102808750hg18UCSC Ensembl
Outerchr7:102807352..102810750hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401578
Supporting Variants
SamplesNA19238
Known GenesSLC26A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695471
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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