A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604151



Internal ID4605967
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630744
Supporting Variants
SamplesHG03469
Known GenesCCDC63, LOC100131138, MYL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604151
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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