A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13018509



Internal ID3020325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152837608..152876169hg38UCSC Ensembl
chr7:152534693..152573254hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3838562
hg1938562
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615532
Supporting Variants
SamplesHG00851
Known GenesACTR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13018509
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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