A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638389



Internal ID7025175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30936363..30938698hg38UCSC Ensembl
Innerchr16:30936405..30938657hg38UCSC Ensembl
Outerchr16:30936322..30938740hg38UCSC Ensembl
chr16:30947684..30950019hg19UCSC Ensembl
Innerchr16:30947726..30949978hg19UCSC Ensembl
Outerchr16:30947643..30950061hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382336
hg192336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441776, essv15441772, essv15441777, essv15441769, essv15441773, essv15441770, essv15441774, essv15441778, essv15441779, essv15441771, essv15441775
SamplesHG02973, NA19448, NA20291, NA19922, HG03048, HG02678, HG02511, HG01894, HG03117, HG02464, HG03279
Known GenesFBXL19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638389
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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