A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12165243



Internal ID2210605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:327586..368712hg38UCSC Ensembl
chr6:327586..368712hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3841127
hg1941127
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607848
Supporting Variants
SamplesHG01988
Known GenesDUSP22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12165243
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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