A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438245



Internal ID6038936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32645926..32649728hg38UCSC Ensembl
chr12:32798860..32802662hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383803
hg193803
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629084
Supporting Variants
SamplesNA19440
Known GenesFGD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438245
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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