A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8928410



Internal ID14006071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325533..28325568hg38UCSC Ensembl
Innerchr6:28325549..28325552hg38UCSC Ensembl
Outerchr6:28325517..28325584hg38UCSC Ensembl
chr6:28293310..28293345hg19UCSC Ensembl
Innerchr6:28293326..28293329hg19UCSC Ensembl
Outerchr6:28293294..28293361hg19UCSC Ensembl
chr6:28401289..28401324hg18UCSC Ensembl
Innerchr6:28401305..28401308hg18UCSC Ensembl
Outerchr6:28401273..28401340hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416573
Supporting Variants
SamplesNA18856
Known GenesZSCAN31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8928410
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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