A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472486



Internal ID1705795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48024884..48029583hg38UCSC Ensembl
Innerchr16:48024884..48029583hg38UCSC Ensembl
Outerchr16:48024384..48030083hg38UCSC Ensembl
chr16:48058795..48063494hg19UCSC Ensembl
Innerchr16:48058795..48063494hg19UCSC Ensembl
Outerchr16:48058295..48063994hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638572
Supporting Variants
SamplesHG01586
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472486
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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