A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608747



Internal ID6995671
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12323050, essv12323051
SamplesNA12414, NA19309
Known GenesGLO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608747
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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