A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14591255



Internal ID1861590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102865809..102866796hg38UCSC Ensembl
Innerchr12:102865816..102866789hg38UCSC Ensembl
Outerchr12:102865802..102866803hg38UCSC Ensembl
chr12:103259587..103260574hg19UCSC Ensembl
Innerchr12:103259594..103260567hg19UCSC Ensembl
Outerchr12:103259580..103260581hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630602
Supporting Variants
SamplesHG01762
Known GenesPAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14591255
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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