A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306461



Internal ID15153409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163393165..163393166hg38UCSC Ensembl
Innerchr6:163393143..163393188hg38UCSC Ensembl
Outerchr6:163393142..163393189hg38UCSC Ensembl
chr6:163814197..163814198hg19UCSC Ensembl
Innerchr6:163814175..163814220hg19UCSC Ensembl
Outerchr6:163814174..163814221hg19UCSC Ensembl
chr6:163734187..163734188hg18UCSC Ensembl
Innerchr6:163734210..163734165hg18UCSC Ensembl
Outerchr6:163734164..163734211hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38311
hg19311
hg18311
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7769144, essv7764496, essv7766319, essv7766528, essv7769057, essv7763380, essv7768813, essv7769399, essv7767869, essv7769592, essv7765223, essv7765693, essv7764350, essv7766212, essv7767452, essv7767339
SamplesNA19141, NA12814, NA11931, NA12045, NA12891, NA07347, NA12287, NA18970, NA19238, NA12815, NA19239, NA12878, NA11840, NA19240, NA12873, NA12874
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306461
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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