A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608956



Internal ID6995880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49982122..49990276hg38UCSC Ensembl
Innerchr6:49982122..49990276hg38UCSC Ensembl
Outerchr6:49981936..49990490hg38UCSC Ensembl
chr6:49949835..49957989hg19UCSC Ensembl
Innerchr6:49949835..49957989hg19UCSC Ensembl
Outerchr6:49949649..49958203hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg388155
hg198155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12345036, essv12345037, essv12345038, essv12345032, essv12345035, essv12345033, essv12345034
SamplesHG02272, HG02275, NA19732, HG02304, HG00623, NA19785, NA19661
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608956
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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