A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629070



Internal ID6669210
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438190, essv14438189
SamplesHG02697, NA20905
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629070
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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