A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594685



Internal ID6634961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234066388..234122527hg38UCSC Ensembl
chr2:234975032..235031171hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856140
hg1956140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879786
SamplesHG03691
Known GenesSPP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594685
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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