A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12313489



Internal ID4036488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34481936..34494859hg38UCSC Ensembl
Innerchr6:34481936..34494859hg38UCSC Ensembl
Outerchr6:34481436..34495359hg38UCSC Ensembl
chr6:34449713..34462636hg19UCSC Ensembl
Innerchr6:34449713..34462636hg19UCSC Ensembl
Outerchr6:34449213..34463136hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3812924
hg1912924
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608662
Supporting Variants
SamplesHG03686
Known GenesPACSIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12313489
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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