A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438189



Internal ID4440005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32233078..32234404hg38UCSC Ensembl
Innerchr12:32233128..32234354hg38UCSC Ensembl
Outerchr12:32233028..32234454hg38UCSC Ensembl
chr12:32386012..32387338hg19UCSC Ensembl
Innerchr12:32386062..32387288hg19UCSC Ensembl
Outerchr12:32385962..32387388hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629070
Supporting Variants
SamplesHG02697
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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