A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12337722



Internal ID6376196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45825169..45836098hg38UCSC Ensembl
chr6:45792906..45803835hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3810930
hg1910930
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608867
Supporting Variants
SamplesNA20318
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12337722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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