A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644903



Internal ID7031654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57476961..57491649hg38UCSC Ensembl
chr19:57988329..58003017hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3814689
hg1914689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16107245, essv16107247, essv16107240, essv16107236, essv16107249, essv16107237, essv16107233, essv16107232, essv16107248, essv16107234, essv16107238, essv16107250, essv16107235, essv16107231, essv16107229, essv16107230, essv16107242, essv16107241, essv16107244, essv16107243, essv16107246, essv16107239, essv16107251
SamplesNA21089, NA11995, HG03237, HG03941, HG03667, HG04100, HG04022, HG03757, HG03885, NA20889, NA20858, HG03787, HG03907, HG04062, HG03786, HG01088, HG03967, HG03745, HG04026, NA20870, NA18552, HG03815, HG03698
Known GenesZNF419, ZNF772
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644903
Frequency
Sample Size2504
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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