A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15618055



Internal ID5619871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14223522..14317556hg38UCSC Ensembl
chr17:14126839..14220873hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3894035
hg1994035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640020
Supporting Variants
SamplesHG03572
Known GenesCDRT15, HS3ST3B1, MGC12916
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15618055
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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