A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639704



Internal ID7026482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2062850..2063794hg38UCSC Ensembl
Innerchr17:2062850..2063794hg38UCSC Ensembl
Outerchr17:2062664..2063991hg38UCSC Ensembl
chr17:1966144..1967088hg19UCSC Ensembl
Innerchr17:1966144..1967088hg19UCSC Ensembl
Outerchr17:1965958..1967285hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15584266
SamplesHG00475
Known GenesSMG6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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