A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479980



Internal ID469653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50982900..50986600hg38UCSC Ensembl
Innerchr12:50982900..50986600hg38UCSC Ensembl
Outerchr12:50982826..50986688hg38UCSC Ensembl
chr12:51376683..51380383hg19UCSC Ensembl
Innerchr12:51376683..51380383hg19UCSC Ensembl
Outerchr12:51376609..51380471hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629496
Supporting Variants
SamplesHG00151
Known GenesSLC11A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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