A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332718



Internal ID14832991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123750004..123750011hg38UCSC Ensembl
Innerchr12:123750006..123750009hg38UCSC Ensembl
Outerchr12:123750002..123750013hg38UCSC Ensembl
chr12:124234551..124234558hg19UCSC Ensembl
Innerchr12:124234553..124234556hg19UCSC Ensembl
Outerchr12:124234549..124234560hg19UCSC Ensembl
chr12:122800504..122800511hg18UCSC Ensembl
Innerchr12:122800506..122800509hg18UCSC Ensembl
Outerchr12:122800502..122800513hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865633
SamplesNA12005
Known GenesATP6V0A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332718
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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