A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433902



Internal ID14934171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141313765..141313782hg38UCSC Ensembl
Innerchr7:141313764..141313783hg38UCSC Ensembl
Outerchr7:141313747..141313800hg38UCSC Ensembl
chr7:141013565..141013582hg19UCSC Ensembl
Innerchr7:141013564..141013583hg19UCSC Ensembl
Outerchr7:141013547..141013600hg19UCSC Ensembl
chr7:140660034..140660051hg18UCSC Ensembl
Innerchr7:140660052..140660033hg18UCSC Ensembl
Outerchr7:140660016..140660069hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676717, essv8676715, essv8676716
SamplesNA12892, NA12891, NA12878
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433902
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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