A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597881



Internal ID6638148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135978190..135982304hg38UCSC Ensembl
Innerchr3:135978191..135982304hg38UCSC Ensembl
Outerchr3:135978190..135982305hg38UCSC Ensembl
chr3:135697032..135701146hg19UCSC Ensembl
Innerchr3:135697033..135701146hg19UCSC Ensembl
Outerchr3:135697032..135701147hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg384115
hg194115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11156812, essv11156798, essv11156767, essv11156808, essv11156783, essv11156754, essv11156771, essv11156762, essv11156796, essv11156777, essv11156755, essv11156797, essv11156790, essv11156775, essv11156768, essv11156785, essv11156757, essv11156773, essv11156806, essv11156763, essv11156789, essv11156810, essv11156795, essv11156758, essv11156765, essv11156766, essv11156774, essv11156776, essv11156779, essv11156782, essv11156794, essv11156811, essv11156804, essv11156805, essv11156800, essv11156756, essv11156778, essv11156784, essv11156801, essv11156769, essv11156802, essv11156780, essv11156759, essv11156799, essv11156760, essv11156788, essv11156786, essv11156792, essv11156787, essv11156770, essv11156772, essv11156781, essv11156803, essv11156764, essv11156809, essv11156807, essv11156793, essv11156791, essv11156761
SamplesHG03163, HG02496, HG03354, NA19214, HG01896, NA19222, HG02450, NA19319, NA19430, NA19923, HG03265, HG02885, HG03124, HG02508, HG03048, NA18489, HG01958, NA19378, HG02323, NA19438, HG02308, HG03162, NA19428, NA19984, NA19107, NA19096, HG02643, NA18876, NA19429, HG03100, HG03027, HG02756, NA19247, NA19189, HG02611, HG02971, HG03366, HG02852, HG03157, NA19711, HG03175, HG03352, NA19138, NA19394, NA19403, HG03267, HG03367, HG03172, NA20287, HG03198, NA19818, HG03123, NA19452, NA18924, NA19130, HG02315, NA19448, NA19468, HG02095
Known GenesPPP2R3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597881
Frequency
Sample Size2504
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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