A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16066414



Internal ID1681726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44983195..44996318hg38UCSC Ensembl
chr19:45486452..45499576hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3813124
hg1913125
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644496
Supporting Variants
SamplesHG01551
Known GenesCLPTM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16066414
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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