A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629083



Internal ID7015905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32556420..32559388hg38UCSC Ensembl
Innerchr12:32556465..32559343hg38UCSC Ensembl
Outerchr12:32556375..32559433hg38UCSC Ensembl
chr12:32709354..32712322hg19UCSC Ensembl
Innerchr12:32709399..32712277hg19UCSC Ensembl
Outerchr12:32709309..32712367hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382969
hg192969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438237
SamplesHG01435
Known GenesFGD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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