A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348937



Internal ID15195919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124073302..124073321hg38UCSC Ensembl
Innerchr12:124073298..124073325hg38UCSC Ensembl
Outerchr12:124073279..124073344hg38UCSC Ensembl
chr12:124557849..124557868hg19UCSC Ensembl
Innerchr12:124557845..124557872hg19UCSC Ensembl
Outerchr12:124557826..124557891hg19UCSC Ensembl
chr12:123123802..123123821hg18UCSC Ensembl
Innerchr12:123123825..123123798hg18UCSC Ensembl
Outerchr12:123123779..123123844hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659824, essv9659813
SamplesNA12814, NA12234
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348937
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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