A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12332879



Internal ID3332663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44180609..44184716hg38UCSC Ensembl
chr6:44148346..44152453hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384108
hg194108
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608826
Supporting Variants
SamplesHG02976
Known GenesCAPN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12332879
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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