A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12784156



Internal ID4953544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55550603..55678150hg38UCSC Ensembl
chr7:55618296..55745843hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38127548
hg19127548
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613244
Supporting Variants
SamplesNA12828
Known GenesVOPP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12784156
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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