A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594749



Internal ID6635025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237797773..237868700hg38UCSC Ensembl
chr2:238706416..238777343hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3870928
hg1970928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887261
SamplesHG03139
Known GenesRAMP1, RBM44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594749
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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