A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591007



Internal ID6978335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60767003..60868272hg38UCSC Ensembl
chr2:60994138..61095407hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38101270
hg19101270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10519501
SamplesHG00375
Known GenesFLJ16341, PAPOLG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591007
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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