A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12333361



Internal ID5021726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44747762..44758601hg38UCSC Ensembl
Innerchr6:44747762..44758601hg38UCSC Ensembl
Outerchr6:44747262..44759101hg38UCSC Ensembl
chr6:44715499..44726338hg19UCSC Ensembl
Innerchr6:44715499..44726338hg19UCSC Ensembl
Outerchr6:44714999..44726838hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3810840
hg1910840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608838
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12333361
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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