A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628519



Internal ID7015343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9940400..9942222hg38UCSC Ensembl
Innerchr12:9940414..9942208hg38UCSC Ensembl
Outerchr12:9940386..9942236hg38UCSC Ensembl
chr12:10092999..10094821hg19UCSC Ensembl
Innerchr12:10093013..10094807hg19UCSC Ensembl
Outerchr12:10092985..10094835hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381823
hg191823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14371928, essv14371929, essv14371927
SamplesNA18988, NA18597, NA19908
Known GenesLOC102467076
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628519
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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