A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644829



Internal ID6684893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55030893..55138732hg38UCSC Ensembl
chr19:55542261..55650100hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38107840
hg19107840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100321, essv16100318, essv16100317, essv16100320, essv16100319
SamplesHG00235, NA19922, HG00232, HG02511, NA18620
Known GenesEPS8L1, GP6, PPP1R12C, RDH13, TNNT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644829
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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