A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15688178



Internal ID1387560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48089253..48090064hg38UCSC Ensembl
Innerchr17:48089303..48090014hg38UCSC Ensembl
Outerchr17:48089203..48090114hg38UCSC Ensembl
chr17:46166615..46167426hg19UCSC Ensembl
Innerchr17:46166665..46167376hg19UCSC Ensembl
Outerchr17:46166565..46167476hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640712
Supporting Variants
SamplesHG01256
Known GenesCBX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15688178
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