A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14329462



Internal ID6204469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115648..162429hg38UCSC Ensembl
chr12:224814..271595hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3846782
hg1946782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628222
Supporting Variants
SamplesNA19731
Known GenesIQSEC3, LOC574538
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14329462
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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