A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10641187



Internal ID3995316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120706800..120733562hg38UCSC Ensembl
chr2:121464376..121491138hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3826763
hg1926763
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592185
Supporting Variants
SamplesHG03645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10641187
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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