A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666089



Internal ID9585508
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6259300, essv5831175, essv5778706, essv5459718, essv6557507, essv6458405
SamplesNA18874, HG00437, NA18489, NA18873, NA20533, NA18982
Known GenesKRTAP3-2, KRTAP3-3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666089
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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