A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15724991



Internal ID4116261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65622533..65693495hg38UCSC Ensembl
chr17:63618651..63689613hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3870963
hg1970963
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641042
Supporting Variants
SamplesHG03736
Known GenesCEP112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15724991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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