A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179130



Internal ID1793234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3365176..3366208hg38UCSC Ensembl
Innerchr6:3365216..3366168hg38UCSC Ensembl
Outerchr6:3365136..3366248hg38UCSC Ensembl
chr6:3365410..3366442hg19UCSC Ensembl
Innerchr6:3365450..3366402hg19UCSC Ensembl
Outerchr6:3365370..3366482hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607931
Supporting Variants
SamplesHG01673
Known GenesSLC22A23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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