A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629066



Internal ID6669206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32139592..32140563hg38UCSC Ensembl
Innerchr12:32139597..32140558hg38UCSC Ensembl
Outerchr12:32139587..32140568hg38UCSC Ensembl
chr12:32292526..32293497hg19UCSC Ensembl
Innerchr12:32292531..32293492hg19UCSC Ensembl
Outerchr12:32292521..32293502hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14437005, essv14437004, essv14437006
SamplesHG02652, NA21104, NA20852
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629066
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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