A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594149



Internal ID6634425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209502016..209566578hg38UCSC Ensembl
chr2:210366740..210431302hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864563
hg1964563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10835237
SamplesHG03694
Known GenesMAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594149
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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