A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591302



Internal ID6631586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75581910..75663772hg38UCSC Ensembl
chr2:75809036..75890898hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3881863
hg1981863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv706e214
Supporting Variantsessv10544512, essv10544511
SamplesNA18956, NA18555
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591302
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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