A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10397041



Internal ID3446339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3368551..3433441hg38UCSC Ensembl
chr2:3372322..3437212hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3864891
hg1964891
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589655
Supporting Variants
SamplesHG03074
Known GenesTRAPPC12, TSSC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10397041
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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