A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5831175



Internal ID8808578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40993961..40999717hg38UCSC Ensembl
chr17:39150213..39155969hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385757
hg195757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666089
Supporting Variants
SamplesNA18874
Known GenesKRTAP3-2, KRTAP3-3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5831175
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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