A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15693172



Internal ID5694988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49018110..49020844hg38UCSC Ensembl
Innerchr17:49018175..49020780hg38UCSC Ensembl
Outerchr17:49018046..49020909hg38UCSC Ensembl
chr17:47095472..47098206hg19UCSC Ensembl
Innerchr17:47095537..47098142hg19UCSC Ensembl
Outerchr17:47095408..47098271hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640732
Supporting Variants
SamplesHG01673
Known GenesIGF2BP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15693172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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