A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730532



Internal ID5732348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68567011..68569101hg38UCSC Ensembl
Innerchr17:68567019..68569094hg38UCSC Ensembl
Outerchr17:68567004..68569109hg38UCSC Ensembl
chr17:66563152..66565242hg19UCSC Ensembl
Innerchr17:66563160..66565235hg19UCSC Ensembl
Outerchr17:66563145..66565250hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382091
hg192091
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641114
Supporting Variants
SamplesHG03096
Known GenesFAM20A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730532
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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