A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593941



Internal ID6634219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199314309..199318891hg38UCSC Ensembl
chr2:200179032..200183614hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384583
hg194583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10818262, essv10818268, essv10818273, essv10818282, essv10818280, essv10818261, essv10818272, essv10818266, essv10818277, essv10818258, essv10818283, essv10818274, essv10818259, essv10818278, essv10818260, essv10818269, essv10818275, essv10818265, essv10818276, essv10818271, essv10818281, essv10818263, essv10818279, essv10818264, essv10818257, essv10818267, essv10818270
SamplesNA18502, HG02702, HG02624, HG02888, HG03069, HG03436, HG03086, HG02621, NA19198, NA18642, HG02816, HG02489, HG02143, NA18868, HG03045, NA19200, HG02820, HG03311, HG03085, HG03388, HG03024, HG02594, HG02613, NA18517, HG03433, NA19438, HG03025
Known GenesSATB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593941
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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