A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588654



Internal ID6976070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206009228..206025282hg38UCSC Ensembl
Innerchr1:206009228..206025282hg38UCSC Ensembl
Outerchr1:206009147..206025782hg38UCSC Ensembl
chr1:206316086..206332140hg19UCSC Ensembl
Innerchr1:206316086..206332140hg19UCSC Ensembl
Outerchr1:206315586..206332640hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3816055
hg1916055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10274043, essv10274049, essv10274044, essv10274042, essv10274041, essv10274039, essv10274040, essv10274047, essv10274046, essv10274048, essv10274045
SamplesNA12842, NA19703, HG00361, HG02786, HG00325, HG00178, HG00290, HG00188, NA12003, HG00366, HG00378
Known GenesCTSE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588654
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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