A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603105



Internal ID6643360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168698307..168700079hg38UCSC Ensembl
Innerchr4:168698308..168700079hg38UCSC Ensembl
Outerchr4:168698307..168700080hg38UCSC Ensembl
chr4:169619458..169621230hg19UCSC Ensembl
Innerchr4:169619459..169621230hg19UCSC Ensembl
Outerchr4:169619458..169621231hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381773
hg191773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11687443, essv11687439, essv11687458, essv11687451, essv11687449, essv11687459, essv11687463, essv11687464, essv11687447, essv11687455, essv11687446, essv11687442, essv11687462, essv11687441, essv11687456, essv11687457, essv11687465, essv11687445, essv11687452, essv11687454, essv11687460, essv11687453, essv11687444, essv11687448, essv11687450, essv11687466, essv11687461, essv11687440
SamplesHG00650, HG03821, HG02029, HG02058, HG00566, HG02521, HG00867, HG02067, NA18560, HG01849, HG00443, HG02121, HG02399, HG02127, NA19012, NA19035, NA18628, HG01878, HG00580, HG01800, NA19310, NA19467, HG02398, HG02401, HG00409, NA18609, HG01794, HG01863
Known GenesPALLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603105
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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