A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749740



Internal ID14810172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33827458..33827459hg38UCSC Ensembl
Innerchr6:33827404..33827513hg38UCSC Ensembl
Outerchr6:33827403..33827514hg38UCSC Ensembl
chr6:33795235..33795236hg19UCSC Ensembl
Innerchr6:33795181..33795290hg19UCSC Ensembl
Outerchr6:33795180..33795291hg19UCSC Ensembl
chr6:33903213..33903214hg18UCSC Ensembl
Innerchr6:33903268..33903159hg18UCSC Ensembl
Outerchr6:33903158..33903269hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381341
hg191341
hg181341
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305241
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749740
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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