A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12323050



Internal ID4893097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38679257..38680635hg38UCSC Ensembl
Innerchr6:38679307..38680585hg38UCSC Ensembl
Outerchr6:38679207..38680685hg38UCSC Ensembl
chr6:38647033..38648411hg19UCSC Ensembl
Innerchr6:38647083..38648361hg19UCSC Ensembl
Outerchr6:38646983..38648461hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608747
Supporting Variants
SamplesNA12414
Known GenesGLO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12323050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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