A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666183



Internal ID9932288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5181886..5182438hg38UCSC Ensembl
Outerchr17:5181849..5182488hg38UCSC Ensembl
Innerchr17:5085181..5085733hg19UCSC Ensembl
Outerchr17:5085144..5085783hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv526e199
Supporting Variantsessv5906925, essv5656245, essv6023678
SamplesNA19700, NA19130, NA19707
Known GenesZNF594
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666183
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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