A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11537130



Internal ID1538946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:92178641..92502792hg38UCSC Ensembl
chr4:93099792..93423943hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38324152
hg19324152
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601393
Supporting Variants
SamplesHG03871
Known GenesGRID2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11537130
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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