A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589174



Internal ID6972109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234510861..234512022hg38UCSC Ensembl
Innerchr1:234510861..234512022hg38UCSC Ensembl
Outerchr1:234510601..234512379hg38UCSC Ensembl
chr1:234646607..234647768hg19UCSC Ensembl
Innerchr1:234646607..234647768hg19UCSC Ensembl
Outerchr1:234646347..234648125hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10330304, essv10330329, essv10330314, essv10330323, essv10330320, essv10330309, essv10330305, essv10330306, essv10330325, essv10330310, essv10330318, essv10330331, essv10330317, essv10330324, essv10330321, essv10330316, essv10330315, essv10330327, essv10330326, essv10330319, essv10330311, essv10330328, essv10330313, essv10330307, essv10330330, essv10330308, essv10330322, essv10330312
SamplesHG02339, HG02973, HG03280, NA19443, HG03452, HG02549, HG02299, NA19923, NA19383, NA19235, HG02571, NA19445, HG03088, HG02144, HG01880, HG02878, NA19436, NA19390, NA18517, HG02799, NA19331, NA19334, HG03259, NA19310, NA19472, HG01464, HG02855, NA18488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589174
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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