A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343209



Internal ID14843477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36696997..36699295hg38UCSC Ensembl
Innerchr6:36697997..36698295hg38UCSC Ensembl
Outerchr6:36695997..36700295hg38UCSC Ensembl
chr6:36664774..36667072hg19UCSC Ensembl
Innerchr6:36665774..36666072hg19UCSC Ensembl
Outerchr6:36663774..36668072hg19UCSC Ensembl
chr6:36772752..36775050hg18UCSC Ensembl
Innerchr6:36773752..36774050hg18UCSC Ensembl
Outerchr6:36771752..36776050hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695292
SamplesNA19239
Known GenesRAB44
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343209
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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