A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588106



Internal ID6628406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182807774..182813042hg38UCSC Ensembl
Innerchr1:182807807..182813010hg38UCSC Ensembl
Outerchr1:182807742..182813075hg38UCSC Ensembl
chr1:182776909..182782177hg19UCSC Ensembl
Innerchr1:182776942..182782145hg19UCSC Ensembl
Outerchr1:182776877..182782210hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385269
hg195269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10208518, essv10208519, essv10208516, essv10208514, essv10208513, essv10208512, essv10208517, essv10208515
SamplesNA12489, NA12282, HG01183, HG01395, NA20813, NA12812, HG00118, NA12842
Known GenesNPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588106
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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