A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303878



Internal ID15150826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12101931..12101932hg38UCSC Ensembl
Innerchr6:12101914..12101949hg38UCSC Ensembl
Outerchr6:12101913..12101950hg38UCSC Ensembl
chr6:12102164..12102165hg19UCSC Ensembl
Innerchr6:12102147..12102182hg19UCSC Ensembl
Outerchr6:12102146..12102183hg19UCSC Ensembl
chr6:12210150..12210151hg18UCSC Ensembl
Innerchr6:12210168..12210133hg18UCSC Ensembl
Outerchr6:12210132..12210169hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7825792, essv7815470, essv7792097, essv7809015, essv7811214, essv7781454, essv7777865, essv7830403, essv7787480, essv7832268, essv7800473, essv7829221, essv7790357, essv7826616, essv7797357
SamplesNA18861, NA18969, NA18519, NA11992, NA12287, NA19138, NA12878, NA18871, NA19114, NA12249, NA12892, NA18570, NA18593, NA19093, NA18609
Known GenesHIVEP1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303878
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer