A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608999



Internal ID6649232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52526818..52528604hg38UCSC Ensembl
Innerchr6:52526826..52528597hg38UCSC Ensembl
Outerchr6:52526811..52528612hg38UCSC Ensembl
chr6:52391616..52393402hg19UCSC Ensembl
Innerchr6:52391624..52393395hg19UCSC Ensembl
Outerchr6:52391609..52393410hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381787
hg191787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12350942
SamplesHG03514
Known GenesTRAM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608999
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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