A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11066220



Internal ID2522831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88107938..88149359hg38UCSC Ensembl
chr3:88157088..88198509hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3841422
hg1941422
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596914
Supporting Variants
SamplesHG02236
Known GenesCGGBP1, ZNF654
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11066220
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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