A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003844



Internal ID5965714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17996933..18032469hg38UCSC Ensembl
chr19:18107742..18143279hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3835537
hg1935538
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643829
Supporting Variants
SamplesNA19378
Known GenesARRDC2, KCNN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003844
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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