A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15758112



Internal ID5759928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80351964..80357069hg38UCSC Ensembl
Innerchr17:80352005..80357029hg38UCSC Ensembl
Outerchr17:80351924..80357110hg38UCSC Ensembl
chr17:78325764..78330869hg19UCSC Ensembl
Innerchr17:78325805..78330829hg19UCSC Ensembl
Outerchr17:78325724..78330910hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385106
hg195106
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641372
Supporting Variants
SamplesHG02549
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15758112
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