A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12620272



Internal ID2622088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162140792..162286626hg38UCSC Ensembl
chr6:162561824..162707658hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38145835
hg19145835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611492
Supporting Variants
SamplesHG00372
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12620272
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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