A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643383



Internal ID6683461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1012555..1069137hg38UCSC Ensembl
chr19:1012554..1069136hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3856583
hg1956583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15967983
SamplesHG00867
Known GenesABCA7, CNN2, HMHA1, TMEM259
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643383
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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