A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10840741



Internal ID6890043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213193271..213198514hg38UCSC Ensembl
chr2:214057995..214063238hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385244
hg195244
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594226
Supporting Variants
SamplesNA21105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10840741
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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