A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10385296



Internal ID5674563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1193133..1241091hg38UCSC Ensembl
chr2:1188819..1244863hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3847959
hg1956045
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589616
Supporting Variants
SamplesNA19078
Known GenesSNTG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10385296
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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