A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628517



Internal ID7015341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9803959..9809778hg38UCSC Ensembl
Innerchr12:9803965..9809772hg38UCSC Ensembl
Outerchr12:9803953..9809784hg38UCSC Ensembl
chr12:9956555..9962374hg19UCSC Ensembl
Innerchr12:9956561..9962368hg19UCSC Ensembl
Outerchr12:9956549..9962380hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385820
hg195820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14371923, essv14371924, essv14371922, essv14371925, essv14371921, essv14371919, essv14371920
SamplesHG02614, HG02339, HG03558, HG02461, NA19113, HG02611, HG02771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628517
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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