A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305153



Internal ID14805415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40747665..40747666hg38UCSC Ensembl
Innerchr15:40747648..40747683hg38UCSC Ensembl
Outerchr15:40747647..40747684hg38UCSC Ensembl
chr15:41039863..41039864hg19UCSC Ensembl
Innerchr15:41039846..41039881hg19UCSC Ensembl
Outerchr15:41039845..41039882hg19UCSC Ensembl
chr15:38827155..38827156hg18UCSC Ensembl
Innerchr15:38827173..38827138hg18UCSC Ensembl
Outerchr15:38827137..38827174hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38258
hg19258
hg18258
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7800316, essv7771748, essv7826866, essv7816320, essv7783150, essv7792322, essv7818323, essv7782103, essv7775291, essv7785066, essv7811370, essv7770103, essv7795304, essv7816953, essv7812741, essv7781681, essv7827286, essv7773238, essv7818995, essv7796835, essv7771704, essv7832638, essv7774352, essv7797672, essv7776366, essv7814035, essv7832926
SamplesNA19141, NA12004, NA07357, NA18960, NA11992, NA18498, NA18949, NA12044, NA10847, NA18516, NA18871, NA18566, NA18573, NA18499, NA11894, NA18856, NA18912, NA19099, NA18523, NA18593, NA18576, NA18909, NA11881, NA19102, NA19116, NA19129, NA18965
Known GenesRMDN3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305153
Frequency
Sample Size185
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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