A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609206



Internal ID6996128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61539985..61604664hg38UCSC Ensembl
chr6:62249890..62314569hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3864680
hg1964680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12387648, essv12387650, essv12387647, essv12387649
SamplesNA11931, NA19717, NA20859, HG02351
Known GenesMTRNR2L9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609206
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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