A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12326747



Internal ID3163783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40276609..40280076hg38UCSC Ensembl
chr6:40244348..40247815hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383468
hg193468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608770
Supporting Variants
SamplesHG02784
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12326747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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