A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590905



Internal ID6978233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57005015..57249766hg38UCSC Ensembl
chr2:57232150..57476901hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38244752
hg19244752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10515286, essv10515291, essv10515288, essv10515292, essv10515290, essv10515294, essv10515289, essv10515287, essv10515293
SamplesHG01441, HG01462, HG01686, NA12282, NA20755, HG00099, HG03653, NA11843, HG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590905
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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