A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629822



Internal ID6669961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67262967..67357107hg38UCSC Ensembl
chr12:67656747..67750887hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3894141
hg1994141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14518693
SamplesHG01522
Known GenesCAND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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