A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352251



Internal ID15199232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28147168..28147187hg38UCSC Ensembl
Innerchr6:28147164..28147191hg38UCSC Ensembl
Outerchr6:28147145..28147210hg38UCSC Ensembl
chr6:28114946..28114965hg19UCSC Ensembl
Innerchr6:28114942..28114969hg19UCSC Ensembl
Outerchr6:28114923..28114988hg19UCSC Ensembl
chr6:28222925..28222944hg18UCSC Ensembl
Innerchr6:28222948..28222921hg18UCSC Ensembl
Outerchr6:28222902..28222967hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9626614
SamplesNA07346
Known GenesZKSCAN8
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352251
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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