A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179613



Internal ID998886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5335705..5459591hg38UCSC Ensembl
Innerchr6:5336205..5459091hg38UCSC Ensembl
Outerchr6:5334705..5460591hg38UCSC Ensembl
chr6:5335938..5459824hg19UCSC Ensembl
Innerchr6:5336438..5459324hg19UCSC Ensembl
Outerchr6:5334938..5460824hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38123887
hg19123887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607968
Supporting Variants
SamplesHG00623
Known GenesFARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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