A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15249308



Internal ID3055881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52420438..52425795hg38UCSC Ensembl
Innerchr15:52420439..52425794hg38UCSC Ensembl
Outerchr15:52420437..52425796hg38UCSC Ensembl
chr15:52712635..52717992hg19UCSC Ensembl
Innerchr15:52712636..52717991hg19UCSC Ensembl
Outerchr15:52712634..52717993hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg385358
hg195358
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636486
Supporting Variants
SamplesHG02685
Known GenesMYO5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15249308
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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