A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612397



Internal ID6999298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16391719..16441969hg38UCSC Ensembl
chr7:16431344..16481594hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3850251
hg1950251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12688179, essv12688178, essv12688192, essv12688173, essv12688177, essv12688188, essv12688184, essv12688182, essv12688187, essv12688174, essv12688181, essv12688191, essv12688185, essv12688176, essv12688183, essv12688175, essv12688190, essv12688186, essv12688189, essv12688180
SamplesHG00351, NA19734, NA18639, HG02285, NA18642, HG00130, HG01628, NA19189, NA20757, NA19451, HG02090, NA19913, HG01345, HG00350, NA19149, HG02088, NA19090, NA19083, NA19080, NA19431
Known GenesISPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612397
Frequency
Sample Size2504
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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