A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10893460



Internal ID3223733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241419395..241490041hg38UCSC Ensembl
chr2:242358810..242429456hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3870647
hg1970647
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594830
Supporting Variants
SamplesHG02836
Known GenesFARP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10893460
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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