A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611488



Internal ID6998394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162073390..162090679hg38UCSC Ensembl
chr6:162494422..162511711hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3817290
hg1917290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12620222, essv12620217, essv12620214, essv12620224, essv12620227, essv12620216, essv12620230, essv12620229, essv12620231, essv12620221, essv12620223, essv12620226, essv12620225, essv12620218, essv12620232, essv12620228, essv12620220, essv12620215, essv12620219
SamplesNA19204, HG03517, HG03717, HG03100, HG03464, NA19171, HG02645, HG02922, NA18520, NA18864, HG02817, NA19113, NA19099, NA19225, HG02721, HG03259, NA19223, NA19463, HG03198
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611488
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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