A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15642738



Internal ID4606999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18604097..18618729hg38UCSC Ensembl
chr17:18507410..18522042hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3814633
hg1914633
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640157
Supporting Variants
SamplesHG04141
Known GenesCCDC144B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15642738
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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