A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672913



Internal ID2906000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42964983..43322347hg38UCSC Ensembl
chr17:41117000..41399710hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38357365
hg19282711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6262678
SamplesNA19785
Known GenesBRCA1, IFI35, LINC00854, NBR1, NBR2, PTGES3L, PTGES3L-AARSD1, RND2, RPL27, RUNDC1, TMEM106A, VAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672913
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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