A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14419433



Internal ID2074073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27725998..27729949hg38UCSC Ensembl
Innerchr12:27725998..27729949hg38UCSC Ensembl
Outerchr12:27725776..27730144hg38UCSC Ensembl
chr12:27878931..27882882hg19UCSC Ensembl
Innerchr12:27878931..27882882hg19UCSC Ensembl
Outerchr12:27878709..27883077hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383952
hg193952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628947
Supporting Variants
SamplesHG01885
Known GenesMRPS35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14419433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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