A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629418



Internal ID7016240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47400374..47402050hg38UCSC Ensembl
Innerchr12:47400389..47402036hg38UCSC Ensembl
Outerchr12:47400360..47402065hg38UCSC Ensembl
chr12:47794157..47795833hg19UCSC Ensembl
Innerchr12:47794172..47795819hg19UCSC Ensembl
Outerchr12:47794143..47795848hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474995
SamplesHG02084
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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