A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599275



Internal ID6986323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196222344..196224428hg38UCSC Ensembl
Innerchr3:196222344..196224428hg38UCSC Ensembl
Outerchr3:196222016..196224668hg38UCSC Ensembl
chr3:195949215..195951299hg19UCSC Ensembl
Innerchr3:195949215..195951299hg19UCSC Ensembl
Outerchr3:195948887..195951539hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382085
hg192085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11306444, essv11306430, essv11306447, essv11306449, essv11306467, essv11306451, essv11306453, essv11306460, essv11306441, essv11306459, essv11306450, essv11306429, essv11306463, essv11306436, essv11306420, essv11306440, essv11306468, essv11306472, essv11306462, essv11306439, essv11306427, essv11306446, essv11306452, essv11306465, essv11306455, essv11306466, essv11306435, essv11306421, essv11306469, essv11306433, essv11306461, essv11306431, essv11306423, essv11306445, essv11306432, essv11306456, essv11306425, essv11306470, essv11306443, essv11306424, essv11306464, essv11306448, essv11306442, essv11306458, essv11306437, essv11306428, essv11306454, essv11306457, essv11306434, essv11306438, essv11306426, essv11306422, essv11306471
SamplesNA20588, HG00102, HG03821, HG03717, HG04076, NA12340, HG01513, NA20796, HG03757, HG01779, HG01167, NA20774, NA12283, HG03911, HG03762, HG01893, NA20539, NA12005, HG02003, HG01281, NA12889, HG00159, HG00178, NA20587, HG03585, HG01164, NA10847, HG03785, HG03718, NA20885, HG01684, NA20760, HG04235, HG01615, HG01474, NA19756, NA12546, HG03653, HG03778, NA20801, NA12873, NA20516, NA12763, HG04023, HG01765, HG03789, HG00259, HG02699, HG02654, HG00105, HG01617, HG01775, HG03955
Known GenesSLC51A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599275
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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