A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593495



Internal ID6633775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178809374..178845060hg38UCSC Ensembl
chr2:179674101..179709787hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3835687
hg1935687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10779409
SamplesHG02952
Known GenesCCDC141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593495
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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