A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594827



Internal ID6982147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241325760..241335933hg38UCSC Ensembl
chr2:242265175..242275348hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3810174
hg1910174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10893457, essv10893454, essv10893451, essv10893455, essv10893453, essv10893452, essv10893456
SamplesHG02836, HG01945, NA20862, HG01708, HG01551, HG02095, HG01431
Known GenesSEPT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594827
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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