A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640342



Internal ID7027117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30548501..30556212hg38UCSC Ensembl
Innerchr17:30548509..30556204hg38UCSC Ensembl
Outerchr17:30548493..30556220hg38UCSC Ensembl
chr17:28875519..28883230hg19UCSC Ensembl
Innerchr17:28875527..28883222hg19UCSC Ensembl
Outerchr17:28875511..28883238hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387712
hg197712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657366
SamplesHG00446
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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