A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672389



Internal ID9938494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7037078..7037434hg38UCSC Ensembl
Outerchr17:7037043..7037470hg38UCSC Ensembl
Innerchr17:6940397..6940753hg19UCSC Ensembl
Outerchr17:6940362..6940789hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5617899, essv5910111, essv6583742, essv6058900, essv6548943, essv5998751, essv5943529, essv6556309, essv6140967, essv6304093
SamplesHG01066, NA20507, HG00158, NA18867, HG00245, NA19455, NA19655, NA19713, HG01055, HG00123
Known GenesSLC16A13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672389
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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