A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586078



Internal ID6973597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53885602..53887725hg38UCSC Ensembl
Innerchr1:53885752..53887575hg38UCSC Ensembl
Outerchr1:53885452..53887875hg38UCSC Ensembl
chr1:54351275..54353398hg19UCSC Ensembl
Innerchr1:54351425..54353248hg19UCSC Ensembl
Outerchr1:54351125..54353548hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382124
hg192124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932263, essv9932273, essv9932252, essv9932253, essv9932251, essv9932276, essv9932262, essv9932256, essv9932268, essv9932278, essv9932274, essv9932267, essv9932255, essv9932260, essv9932280, essv9932259, essv9932284, essv9932285, essv9932269, essv9932281, essv9932264, essv9932250, essv9932258, essv9932261, essv9932282, essv9932270, essv9932275, essv9932248, essv9932257, essv9932266, essv9932277, essv9932283, essv9932254, essv9932272, essv9932279, essv9932249, essv9932265, essv9932271
SamplesHG01965, NA18878, HG03100, HG03193, HG02895, HG02325, NA19119, HG02620, NA19916, HG01354, HG02505, HG02281, HG01950, HG03225, HG01771, NA19456, HG02715, HG03088, NA19152, HG02102, HG03124, NA18879, HG02445, NA19320, HG03571, NA19099, NA19309, HG02282, NA19019, HG02546, NA19380, HG03433, HG02768, NA18873, HG02465, HG03072, HG02808, HG03118
Known GenesYIPF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586078
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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