A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571755



Internal ID4573571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93749488..93750323hg38UCSC Ensembl
Innerchr12:93749490..93750321hg38UCSC Ensembl
Outerchr12:93749486..93750325hg38UCSC Ensembl
chr12:94143264..94144099hg19UCSC Ensembl
Innerchr12:94143266..94144097hg19UCSC Ensembl
Outerchr12:94143262..94144101hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630402
Supporting Variants
SamplesHG00350
Known GenesCRADD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571755
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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