A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629076



Internal ID6669216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32401472..32407015hg38UCSC Ensembl
Innerchr12:32401472..32407015hg38UCSC Ensembl
Outerchr12:32401285..32407230hg38UCSC Ensembl
chr12:32554406..32559949hg19UCSC Ensembl
Innerchr12:32554406..32559949hg19UCSC Ensembl
Outerchr12:32554219..32560164hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385544
hg195544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438221, essv14438222
SamplesHG02111, NA19360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629076
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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