A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610734



Internal ID6997651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128111565..128116449hg38UCSC Ensembl
Innerchr6:128111565..128116449hg38UCSC Ensembl
Outerchr6:128111289..128116809hg38UCSC Ensembl
chr6:128432710..128437594hg19UCSC Ensembl
Innerchr6:128432710..128437594hg19UCSC Ensembl
Outerchr6:128432434..128437954hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384885
hg194885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12541244, essv12541240, essv12541239, essv12541243, essv12541241, essv12541242, essv12541236, essv12541237, essv12541235, essv12541238
SamplesHG00179, HG02253, HG00368, HG00273, NA11894, NA12890, NA12154, HG00362, NA19676, HG01608
Known GenesPTPRK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610734
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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