A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8959052



Internal ID14850512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102152756..102152790hg38UCSC Ensembl
Innerchr12:102152767..102152777hg38UCSC Ensembl
Outerchr12:102152733..102152811hg38UCSC Ensembl
chr12:102546534..102546568hg19UCSC Ensembl
Innerchr12:102546545..102546555hg19UCSC Ensembl
Outerchr12:102546511..102546589hg19UCSC Ensembl
chr12:101070664..101070698hg18UCSC Ensembl
Innerchr12:101070685..101070675hg18UCSC Ensembl
Outerchr12:101070641..101070719hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358325
Supporting Variants
SamplesNA19108
Known GenesPARPBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8959052
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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