A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628743



Internal ID7015567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18757281..18758011hg38UCSC Ensembl
Innerchr12:18757331..18757961hg38UCSC Ensembl
Outerchr12:18757175..18758117hg38UCSC Ensembl
chr12:18910215..18910945hg19UCSC Ensembl
Innerchr12:18910265..18910895hg19UCSC Ensembl
Outerchr12:18910109..18911051hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401269, essv14401270
SamplesHG00309, HG00360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628743
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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