A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590254



Internal ID6630541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32448908..32740362hg38UCSC Ensembl
chr2:32673976..32965429hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38291455
hg19291454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447719, essv10447720, essv10447718
SamplesHG01344, HG00275, HG03082
Known GenesBIRC6, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590254
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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