A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8700576



Internal ID13636120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163898380..163899205hg38UCSC Ensembl
Innerchr6:163898440..163899136hg38UCSC Ensembl
Outerchr6:163898290..163899246hg38UCSC Ensembl
chr6:164319412..164320237hg19UCSC Ensembl
Innerchr6:164319472..164320168hg19UCSC Ensembl
Outerchr6:164319322..164320278hg19UCSC Ensembl
chr6:164239402..164240227hg18UCSC Ensembl
Innerchr6:164239462..164240158hg18UCSC Ensembl
Outerchr6:164239312..164240268hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38826
hg19826
hg18826
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361508
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8700576
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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