A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441741



Internal ID5443557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30033129..30038596hg38UCSC Ensembl
Innerchr16:30033180..30038546hg38UCSC Ensembl
Outerchr16:30033079..30038647hg38UCSC Ensembl
chr16:30044450..30049917hg19UCSC Ensembl
Innerchr16:30044501..30049867hg19UCSC Ensembl
Outerchr16:30044400..30049968hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385468
hg195468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638379
Supporting Variants
SamplesHG02325
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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