A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630964



Internal ID6671097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121979665..121992197hg38UCSC Ensembl
chr12:122417571..122430103hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812533
hg1912533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14620025
SamplesHG01855
Known GenesWDR66
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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