A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12159811



Internal ID2161627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:180946..734275hg38UCSC Ensembl
chr6:180946..734275hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38553330
hg19553330
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607835
Supporting Variants
SamplesHG03917
Known GenesDUSP22, EXOC2, HUS1B, IRF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12159811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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