A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701279



Internal ID13295680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127917554..127917554hg38UCSC Ensembl
Innerchr12:127917553..127917555hg38UCSC Ensembl
Outerchr12:127917504..127917604hg38UCSC Ensembl
chr12:128402099..128402099hg19UCSC Ensembl
Innerchr12:128402098..128402100hg19UCSC Ensembl
Outerchr12:128402049..128402149hg19UCSC Ensembl
chr12:126968052..126968052hg18UCSC Ensembl
Innerchr12:126968053..126968051hg18UCSC Ensembl
Outerchr12:126968002..126968102hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38184
hg19184
hg18184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368927
Supporting Variants
SamplesNA12878
Known GenesLINC00507
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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