A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15760175



Internal ID5761991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81004030..81020768hg38UCSC Ensembl
Innerchr17:81004043..81020756hg38UCSC Ensembl
Outerchr17:81004018..81020781hg38UCSC Ensembl
chr17:78977830..78994568hg19UCSC Ensembl
Innerchr17:78977843..78994556hg19UCSC Ensembl
Outerchr17:78977818..78994581hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3816739
hg1916739
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641390
Supporting Variants
SamplesHG00458
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15760175
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