A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591839



Internal ID6632123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105771797..105775058hg38UCSC Ensembl
chr2:106388254..106391515hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599265, essv10599266, essv10599259, essv10599252, essv10599261, essv10599254, essv10599257, essv10599264, essv10599253, essv10599269, essv10599251, essv10599262, essv10599260, essv10599256, essv10599268, essv10599267, essv10599258, essv10599255, essv10599263
SamplesHG01250, HG01624, HG00117, HG01704, HG01762, NA19472, NA20764, HG03953, HG01113, HG01281, NA20756, HG01695, NA19740, NA11830, HG01464, NA20832, HG01251, HG03908, HG03824
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591839
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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