A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695029



Internal ID15050125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1243817..1244415hg38UCSC Ensembl
Innerchr6:1243816..1244416hg38UCSC Ensembl
Outerchr6:1242817..1245415hg38UCSC Ensembl
chr6:1244052..1244650hg19UCSC Ensembl
Innerchr6:1244051..1244651hg19UCSC Ensembl
Outerchr6:1243052..1245650hg19UCSC Ensembl
chr6:1189052..1189650hg18UCSC Ensembl
Innerchr6:1189651..1189051hg18UCSC Ensembl
Outerchr6:1188052..1190650hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3412932
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695029
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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