A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12541237



Internal ID765687
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610734
Supporting Variants
SamplesHG00362
Known GenesPTPRK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12541237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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