A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580918



Internal ID5582734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1597358..1602828hg38UCSC Ensembl
Innerchr17:1597858..1602328hg38UCSC Ensembl
Outerchr17:1596358..1603828hg38UCSC Ensembl
chr17:1500652..1506122hg19UCSC Ensembl
Innerchr17:1501152..1505622hg19UCSC Ensembl
Outerchr17:1499652..1507122hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg385471
hg195471
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639691
Supporting Variants
SamplesHG01869
Known GenesSLC43A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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