A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377345



Internal ID4580873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12086299..12113970hg38UCSC Ensembl
Innerchr16:12086299..12113970hg38UCSC Ensembl
Outerchr16:12085799..12114470hg38UCSC Ensembl
chr16:12180156..12207827hg19UCSC Ensembl
Innerchr16:12180156..12207827hg19UCSC Ensembl
Outerchr16:12179656..12208327hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3827672
hg1927672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637954
Supporting Variants
SamplesHG04094
Known GenesSNX29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377345
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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