A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14528180



Internal ID4529996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71755848..71759299hg38UCSC Ensembl
Innerchr12:71755848..71759299hg38UCSC Ensembl
Outerchr12:71755723..71759433hg38UCSC Ensembl
chr12:72149628..72153079hg19UCSC Ensembl
Innerchr12:72149628..72153079hg19UCSC Ensembl
Outerchr12:72149503..72153213hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629915
Supporting Variants
SamplesHG01170
Known GenesRAB21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14528180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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