A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590632



Internal ID6977961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47550593..47555978hg38UCSC Ensembl
chr2:47777732..47783117hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385386
hg195386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10492971
SamplesHG03380
Known GenesKCNK12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590632
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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