A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14606792



Internal ID1669446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113323769..113326951hg38UCSC Ensembl
Innerchr12:113323800..113326920hg38UCSC Ensembl
Outerchr12:113323738..113326982hg38UCSC Ensembl
chr12:113761574..113764756hg19UCSC Ensembl
Innerchr12:113761605..113764725hg19UCSC Ensembl
Outerchr12:113761543..113764787hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383183
hg193183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630796
Supporting Variants
SamplesHG01530
Known GenesSLC8B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14606792
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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