A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446771



Internal ID15293721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52793599..52793629hg38UCSC Ensembl
Innerchr12:52793601..52793627hg38UCSC Ensembl
Outerchr12:52793597..52793631hg38UCSC Ensembl
chr12:53187383..53187413hg19UCSC Ensembl
Innerchr12:53187385..53187411hg19UCSC Ensembl
Outerchr12:53187381..53187415hg19UCSC Ensembl
chr12:51473650..51473680hg18UCSC Ensembl
Innerchr12:51473652..51473678hg18UCSC Ensembl
Outerchr12:51473648..51473682hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865577
SamplesNA12005
Known GenesKRT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446771
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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