A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559533



Internal ID3229029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134279266..134283261hg38UCSC Ensembl
Innerchr6:134279266..134283261hg38UCSC Ensembl
Outerchr6:134278998..134283548hg38UCSC Ensembl
chr6:134600404..134604399hg19UCSC Ensembl
Innerchr6:134600404..134604399hg19UCSC Ensembl
Outerchr6:134600136..134604686hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383996
hg193996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610875
Supporting Variants
SamplesHG02839
Known GenesSGK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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