A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630744



Internal ID6670878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110849055..110980384hg38UCSC Ensembl
chr12:111286859..111418188hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38131330
hg19131330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604151
SamplesHG03469
Known GenesCCDC63, LOC100131138, MYL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630744
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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