A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643556



Internal ID6683627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6377364..6387673hg38UCSC Ensembl
chr19:6377375..6387684hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810310
hg1910310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15986106, essv15986108, essv15986105, essv15986116, essv15986100, essv15986107, essv15986117, essv15986121, essv15986118, essv15986099, essv15986113, essv15986104, essv15986111, essv15986102, essv15986112, essv15986115, essv15986120, essv15986122, essv15986119, essv15986109, essv15986101, essv15986103, essv15986110, essv15986114
SamplesHG01173, NA20274, HG01465, HG01971, HG00641, HG03770, HG01070, HG00109, NA20890, NA12282, NA20757, HG00108, HG02102, NA20881, NA19625, NA20799, HG02089, HG02684, HG03838, HG01977, HG03789, HG02654, HG01631, NA18623
Known GenesGTF2F1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643556
Frequency
Sample Size2504
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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