A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741206



Internal ID13642340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149677066..149677210hg38UCSC Ensembl
Innerchr6:149677116..149677160hg38UCSC Ensembl
Outerchr6:149677016..149677260hg38UCSC Ensembl
chr6:149998202..149998346hg19UCSC Ensembl
Innerchr6:149998252..149998296hg19UCSC Ensembl
Outerchr6:149998152..149998396hg19UCSC Ensembl
chr6:150039895..150040039hg18UCSC Ensembl
Innerchr6:150039945..150039989hg18UCSC Ensembl
Outerchr6:150039845..150040089hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38145
hg19145
hg18145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3363174
Supporting Variants
SamplesNA12878
Known GenesLATS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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