A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660756



Internal ID9580175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21351662..22533633hg38UCSC Ensembl
Outerchr17:21351628..22533668hg38UCSC Ensembl
Innerchr17:21254974..22032959hg19UCSC Ensembl
Outerchr17:21254940..22032994hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381182041
hg19778055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6074555, essv5536315, essv6018304, essv6047756, essv6560395, essv5444342
SamplesHG01066, HG00330, HG00236, HG00275, HG00381, HG00421
Known GenesC17orf51, FAM27L, FLJ36000, KCNJ12, KCNJ18, MTRNR2L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660756
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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