A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660696



Internal ID9580115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1599625..1603581hg38UCSC Ensembl
Outerchr17:1599468..1603734hg38UCSC Ensembl
Innerchr17:1502919..1506875hg19UCSC Ensembl
Outerchr17:1502762..1507028hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384267
hg194267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6050560, essv5966632
SamplesHG01080, HG00553
Known GenesSLC43A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660696
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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