A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306929



Internal ID14807191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25379995..25379996hg38UCSC Ensembl
Innerchr6:25379967..25380024hg38UCSC Ensembl
Outerchr6:25379966..25380025hg38UCSC Ensembl
chr6:25380223..25380224hg19UCSC Ensembl
Innerchr6:25380195..25380252hg19UCSC Ensembl
Outerchr6:25380194..25380253hg19UCSC Ensembl
chr6:25488202..25488203hg18UCSC Ensembl
Innerchr6:25488231..25488174hg18UCSC Ensembl
Outerchr6:25488173..25488232hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748865, essv7745119, essv7748277, essv7742081, essv7756619, essv7755732, essv7753943, essv7755283, essv7757945, essv7760796
SamplesNA11918, NA18550, NA18570, NA18545, NA18573, NA18566, NA18638, NA18571, NA18532, NA18853
Known GenesLRRC16A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306929
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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