A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14520613



Internal ID4452569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68854895..68855816hg38UCSC Ensembl
Innerchr12:68855022..68855650hg38UCSC Ensembl
Outerchr12:68854749..68855962hg38UCSC Ensembl
chr12:69248675..69249596hg19UCSC Ensembl
Innerchr12:69248802..69249430hg19UCSC Ensembl
Outerchr12:69248529..69249742hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629859
Supporting Variants
SamplesHG03960
Known GenesCPM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14520613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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