A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12333937



Internal ID1751589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45140554..45165113hg38UCSC Ensembl
Innerchr6:45140562..45165105hg38UCSC Ensembl
Outerchr6:45140546..45165121hg38UCSC Ensembl
chr6:45108291..45132850hg19UCSC Ensembl
Innerchr6:45108299..45132842hg19UCSC Ensembl
Outerchr6:45108283..45132858hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3824560
hg1924560
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608854
Supporting Variants
SamplesHG01617
Known GenesSUPT3H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12333937
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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