A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585168



Internal ID6972692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9260085..9343720hg38UCSC Ensembl
chr1:9320144..9403779hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3883636
hg1983636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9850201, essv9850199, essv9850205, essv9850203, essv9850198, essv9850204, essv9850200, essv9850197, essv9850202
SamplesNA20588, HG00257, HG03941, NA20896, NA18544, NA20858, HG01707, HG04188, NA20815
Known GenesH6PD, SPSB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585168
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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