A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640613



Internal ID7027388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42757146..42758118hg38UCSC Ensembl
Innerchr17:42757179..42758085hg38UCSC Ensembl
Outerchr17:42757113..42758151hg38UCSC Ensembl
chr17:40909164..40910136hg19UCSC Ensembl
Innerchr17:40909197..40910103hg19UCSC Ensembl
Outerchr17:40909131..40910169hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679106
SamplesHG01028
Known GenesRAMP2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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