A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15293103



Internal ID2681596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75358550..75361668hg38UCSC Ensembl
Innerchr15:75358550..75361668hg38UCSC Ensembl
Outerchr15:75358297..75361858hg38UCSC Ensembl
chr15:75650891..75654009hg19UCSC Ensembl
Innerchr15:75650891..75654009hg19UCSC Ensembl
Outerchr15:75650638..75654199hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg383119
hg193119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636925
Supporting Variants
SamplesHG02375
Known GenesMAN2C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15293103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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