A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423301



Internal ID15270258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136045898..136045916hg38UCSC Ensembl
Innerchr6:136045900..136045912hg38UCSC Ensembl
Outerchr6:136045882..136045930hg38UCSC Ensembl
chr6:136367036..136367054hg19UCSC Ensembl
Innerchr6:136367038..136367050hg19UCSC Ensembl
Outerchr6:136367020..136367068hg19UCSC Ensembl
chr6:136408729..136408747hg18UCSC Ensembl
Innerchr6:136408743..136408731hg18UCSC Ensembl
Outerchr6:136408713..136408761hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676221, essv8676219
SamplesNA12891, NA12892
Known GenesPDE7B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423301
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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