A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417816



Internal ID4419632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27624815..27631875hg38UCSC Ensembl
Innerchr12:27624821..27631870hg38UCSC Ensembl
Outerchr12:27624810..27631881hg38UCSC Ensembl
chr12:27777748..27784808hg19UCSC Ensembl
Innerchr12:27777754..27784803hg19UCSC Ensembl
Outerchr12:27777743..27784814hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387061
hg197061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628944
Supporting Variants
SamplesNA19006
Known GenesPPFIBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer