A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893045



Internal ID19183865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76326045..76340463hg38UCSC Ensembl
Outerchr17:76322042..76340464hg38UCSC Ensembl
Innerchr17:74322126..74336544hg19UCSC Ensembl
Outerchr17:74318123..74336545hg19UCSC Ensembl
Innerchr17:71833721..71848139hg18UCSC Ensembl
Outerchr17:71829718..71848140hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3818423
hg1918423
hg1818423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782691, essv25797758
Samples
Known GenesPRPSAP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893045
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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