A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680756



Internal ID4682572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30146805..30231044hg38UCSC Ensembl
chr13:30720942..30805181hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3884240
hg1984240
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631667
Supporting Variants
SamplesHG03594
Known GenesKATNAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680756
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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