A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12112164



Internal ID1668616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158753099..158905129hg38UCSC Ensembl
chr5:158180107..158332137hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38152031
hg19152031
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607333
Supporting Variants
SamplesHG01528
Known GenesEBF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12112164
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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