A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094712



Internal ID1449334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149612851..149674770hg38UCSC Ensembl
chr5:148992414..149054333hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3861920
hg1961920
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607146
Supporting Variants
SamplesHG01342
Known GenesARHGEF37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094712
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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