A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610787



Internal ID6997704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130343809..130358885hg38UCSC Ensembl
Innerchr6:130343859..130358835hg38UCSC Ensembl
Outerchr6:130343759..130358935hg38UCSC Ensembl
chr6:130664954..130680030hg19UCSC Ensembl
Innerchr6:130665004..130679980hg19UCSC Ensembl
Outerchr6:130664904..130680080hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3815077
hg1915077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12547383
SamplesHG00254
Known GenesSAMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610787
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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