A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8923347



Internal ID14860897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10422726..10422744hg38UCSC Ensembl
Innerchr5:10422721..10422747hg38UCSC Ensembl
Outerchr5:10422703..10422767hg38UCSC Ensembl
chr5:10422838..10422856hg19UCSC Ensembl
Innerchr5:10422833..10422859hg19UCSC Ensembl
Outerchr5:10422815..10422879hg19UCSC Ensembl
chr5:10475838..10475856hg18UCSC Ensembl
Innerchr5:10475859..10475833hg18UCSC Ensembl
Outerchr5:10475815..10475879hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3420488
Supporting Variants
SamplesNA19114
Known GenesMARCH6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8923347
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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