A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695021



Internal ID15050175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11319233..11320931hg38UCSC Ensembl
Innerchr6:11319931..11320233hg38UCSC Ensembl
Outerchr6:11318233..11321931hg38UCSC Ensembl
chr6:11319466..11321164hg19UCSC Ensembl
Innerchr6:11320164..11320466hg19UCSC Ensembl
Outerchr6:11318466..11322164hg19UCSC Ensembl
chr6:11427452..11429150hg18UCSC Ensembl
Innerchr6:11428452..11428150hg18UCSC Ensembl
Outerchr6:11426452..11430150hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352794
Supporting Variants
SamplesNA19239
Known GenesNEDD9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695021
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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