A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15176443



Internal ID5178259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22818925..22904223hg38UCSC Ensembl
chr15:22968845..23054143hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3885299
hg1985299
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635821
Supporting Variants
SamplesHG02075
Known GenesCYFIP1, NIPA1, NIPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15176443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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