A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12620689



Internal ID2622505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162194332..162206607hg38UCSC Ensembl
Innerchr6:162194359..162206581hg38UCSC Ensembl
Outerchr6:162194306..162206634hg38UCSC Ensembl
chr6:162615364..162627639hg19UCSC Ensembl
Innerchr6:162615391..162627613hg19UCSC Ensembl
Outerchr6:162615338..162627666hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3812276
hg1912276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611496
Supporting Variants
SamplesHG03717
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12620689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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