A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630929



Internal ID6671062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120687222..120691215hg38UCSC Ensembl
Innerchr12:120687231..120691207hg38UCSC Ensembl
Outerchr12:120687214..120691224hg38UCSC Ensembl
chr12:121125025..121129018hg19UCSC Ensembl
Innerchr12:121125034..121129010hg19UCSC Ensembl
Outerchr12:121125017..121129027hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383994
hg193994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618734
SamplesNA12763
Known GenesMLEC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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