A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15687907



Internal ID5689723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47350758..47415625hg38UCSC Ensembl
chr17:45428124..45492991hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3864868
hg1964868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640699
Supporting Variants
SamplesHG02481
Known GenesEFCAB13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15687907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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