A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676355



Internal ID13726049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2773770..2773786hg38UCSC Ensembl
Innerchr6:2773768..2773786hg38UCSC Ensembl
Outerchr6:2773752..2773802hg38UCSC Ensembl
chr6:2774004..2774020hg19UCSC Ensembl
Innerchr6:2774002..2774020hg19UCSC Ensembl
Outerchr6:2773986..2774036hg19UCSC Ensembl
chr6:2719003..2719019hg18UCSC Ensembl
Innerchr6:2719019..2719001hg18UCSC Ensembl
Outerchr6:2718985..2719035hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347625
Supporting Variants
SamplesNA12892
Known GenesWRNIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676355
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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