A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675560



Internal ID9594979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10710698..10748114hg38UCSC Ensembl
Outerchr17:10710661..10748164hg38UCSC Ensembl
Innerchr17:10614015..10651431hg19UCSC Ensembl
Outerchr17:10613978..10651481hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3837504
hg1937504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6249532
SamplesNA20756
Known GenesADPRM, MAGOH2, TMEM220, TMEM220-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675560
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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