A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640374



Internal ID7027149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31966304..31968344hg38UCSC Ensembl
Innerchr17:31966304..31968344hg38UCSC Ensembl
Outerchr17:31966228..31968380hg38UCSC Ensembl
chr17:30293323..30295363hg19UCSC Ensembl
Innerchr17:30293323..30295363hg19UCSC Ensembl
Outerchr17:30293247..30295399hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382041
hg192041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15659283, essv15659282
SamplesNA18975, NA19000
Known GenesSUZ12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640374
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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