A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441716



Internal ID5443532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29686638..29692524hg38UCSC Ensembl
Innerchr16:29686638..29692524hg38UCSC Ensembl
Outerchr16:29686138..29693024hg38UCSC Ensembl
chr16:29697959..29703845hg19UCSC Ensembl
Innerchr16:29697959..29703845hg19UCSC Ensembl
Outerchr16:29697459..29704345hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638370
Supporting Variants
SamplesHG02325
Known GenesQPRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441716
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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