A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628266



Internal ID6668409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:964364..970109hg38UCSC Ensembl
Innerchr12:964386..970088hg38UCSC Ensembl
Outerchr12:964343..970131hg38UCSC Ensembl
chr12:1073530..1079275hg19UCSC Ensembl
Innerchr12:1073552..1079254hg19UCSC Ensembl
Outerchr12:1073509..1079297hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385746
hg195746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333099, essv14333089, essv14333093, essv14333098, essv14333097, essv14333096, essv14333085, essv14333091, essv14333094, essv14333086, essv14333081, essv14333088, essv14333092, essv14333087, essv14333083, essv14333100, essv14333079, essv14333095, essv14333084, essv14333082, essv14333080, essv14333090
SamplesHG02610, NA19466, NA19332, NA19098, HG03436, NA19319, HG03168, HG02561, HG03583, HG03394, HG03343, HG02554, NA18516, HG01948, NA19118, HG01241, HG02256, HG02837, NA19310, NA19818, HG03279, HG02679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628266
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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