A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15687990



Internal ID5689806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47920089..47921482hg38UCSC Ensembl
Innerchr17:47920139..47921432hg38UCSC Ensembl
Outerchr17:47920021..47921550hg38UCSC Ensembl
chr17:45997455..45998848hg19UCSC Ensembl
Innerchr17:45997505..45998798hg19UCSC Ensembl
Outerchr17:45997387..45998916hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381394
hg191394
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640708
Supporting Variants
SamplesHG03955
Known GenesLOC100506325, SP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15687990
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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