A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695469



Internal ID15093504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103380369..103382367hg38UCSC Ensembl
Innerchr7:103381367..103381369hg38UCSC Ensembl
Outerchr7:103379369..103383367hg38UCSC Ensembl
chr7:103020816..103022814hg19UCSC Ensembl
Innerchr7:103021814..103021816hg19UCSC Ensembl
Outerchr7:103019816..103023814hg19UCSC Ensembl
chr7:102808052..102810050hg18UCSC Ensembl
Innerchr7:102809052..102809050hg18UCSC Ensembl
Outerchr7:102807052..102811050hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334511
Supporting Variants
SamplesNA19240
Known GenesSLC26A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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