A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6023190



Internal ID9628669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41034450..41040996hg38UCSC Ensembl
chr17:39190702..39197248hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386547
hg196547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659091
Supporting Variants
SamplesNA19350
Known GenesKRTAP1-1, KRTAP1-3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6023190
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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