A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15656943



Internal ID4669903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28846638..28852629hg38UCSC Ensembl
Innerchr17:28846688..28852579hg38UCSC Ensembl
Outerchr17:28846496..28852771hg38UCSC Ensembl
chr17:27173656..27179647hg19UCSC Ensembl
Innerchr17:27173706..27179597hg19UCSC Ensembl
Outerchr17:27173514..27179789hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385992
hg195992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640314
Supporting Variants
SamplesHG04195
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15656943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer