A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12620868



Internal ID2622684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162269318..162362620hg38UCSC Ensembl
chr6:162690350..162783652hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3893303
hg1993303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611505
Supporting Variants
SamplesHG00593
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12620868
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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