A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611489



Internal ID6998395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162075332..162085916hg38UCSC Ensembl
Innerchr6:162075332..162085916hg38UCSC Ensembl
Outerchr6:162075073..162086119hg38UCSC Ensembl
chr6:162496364..162506948hg19UCSC Ensembl
Innerchr6:162496364..162506948hg19UCSC Ensembl
Outerchr6:162496105..162507151hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3810585
hg1910585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12620235, essv12620242, essv12620252, essv12620250, essv12620249, essv12620238, essv12620233, essv12620243, essv12620251, essv12620241, essv12620247, essv12620236, essv12620245, essv12620234, essv12620248, essv12620237, essv12620244, essv12620239, essv12620240, essv12620246
SamplesNA19204, HG03517, HG03717, HG03100, HG03464, NA19171, HG02645, HG02922, NA18520, NA18864, HG02817, NA19113, NA19099, NA19338, NA19225, HG02721, HG03259, NA19223, NA19463, HG03198
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611489
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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