A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629472



Internal ID7016294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50152417..50156080hg38UCSC Ensembl
Innerchr12:50152451..50156047hg38UCSC Ensembl
Outerchr12:50152384..50156114hg38UCSC Ensembl
chr12:50546200..50549863hg19UCSC Ensembl
Innerchr12:50546234..50549830hg19UCSC Ensembl
Outerchr12:50546167..50549897hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383664
hg193664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14478791, essv14478790, essv14478789, essv14478788, essv14478787
SamplesHG02035, HG01366, NA19717, HG03625, HG01086
Known GenesCERS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629472
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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