A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410973



Internal ID4412789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24217468..24224767hg38UCSC Ensembl
chr12:24370402..24377701hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628860
Supporting Variants
SamplesHG02697
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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