A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639691



Internal ID6679781
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15580919, essv15580918
SamplesNA19315, HG01869
Known GenesSLC43A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639691
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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