A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12328529



Internal ID6459568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41985361..41988767hg38UCSC Ensembl
Innerchr6:41985418..41988711hg38UCSC Ensembl
Outerchr6:41985305..41988824hg38UCSC Ensembl
chr6:41953099..41956505hg19UCSC Ensembl
Innerchr6:41953156..41956449hg19UCSC Ensembl
Outerchr6:41953043..41956562hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383407
hg193407
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608794
Supporting Variants
SamplesNA20516
Known GenesCCND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12328529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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