A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15982872



Internal ID4279274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5447713..5459526hg38UCSC Ensembl
chr19:5447724..5459537hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3811814
hg1911814
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643526
Supporting Variants
SamplesHG03846
Known GenesZNRF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15982872
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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