A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330791



Internal ID15177781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1926800..1927516hg38UCSC Ensembl
Innerchr6:1926799..1927517hg38UCSC Ensembl
Outerchr6:1926690..1927636hg38UCSC Ensembl
chr6:1927034..1927750hg19UCSC Ensembl
Innerchr6:1927033..1927751hg19UCSC Ensembl
Outerchr6:1926924..1927870hg19UCSC Ensembl
chr6:1872033..1872749hg18UCSC Ensembl
Innerchr6:1872750..1872032hg18UCSC Ensembl
Outerchr6:1871923..1872869hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809375
SamplesNA12878
Known GenesGMDS
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330791
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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