A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609774



Internal ID6996694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83244787..83251403hg38UCSC Ensembl
chr6:83954506..83961122hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg386617
hg196617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12453965, essv12453964
SamplesHG03199, NA18912
Known GenesME1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609774
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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