A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5682081



Internal ID9619344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75095811..75096981hg38UCSC Ensembl
Outerchr17:75095772..75097038hg38UCSC Ensembl
Innerchr17:73091906..73093076hg19UCSC Ensembl
Outerchr17:73091867..73093133hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664007
Supporting Variants
SamplesNA19327
Known GenesSLC16A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5682081
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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