A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15585977



Internal ID4117546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2931730..2953700hg38UCSC Ensembl
Innerchr17:2931730..2953700hg38UCSC Ensembl
Outerchr17:2931230..2954200hg38UCSC Ensembl
chr17:2835024..2856994hg19UCSC Ensembl
Innerchr17:2835024..2856994hg19UCSC Ensembl
Outerchr17:2834524..2857494hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3821971
hg1921971
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639731
Supporting Variants
SamplesHG03738
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15585977
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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