A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356212



Internal ID15203192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42658511..42658524hg38UCSC Ensembl
Innerchr6:42658503..42658532hg38UCSC Ensembl
Outerchr6:42658490..42658545hg38UCSC Ensembl
chr6:42626249..42626262hg19UCSC Ensembl
Innerchr6:42626241..42626270hg19UCSC Ensembl
Outerchr6:42626228..42626283hg19UCSC Ensembl
chr6:42734227..42734240hg18UCSC Ensembl
Innerchr6:42734248..42734219hg18UCSC Ensembl
Outerchr6:42734206..42734261hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676425, essv8676426
SamplesNA19238, NA19240
Known GenesUBR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356212
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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