A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597178



Internal ID6637448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100616027..100727306hg38UCSC Ensembl
Innerchr3:100616177..100727156hg38UCSC Ensembl
Outerchr3:100615877..100727456hg38UCSC Ensembl
chr3:100334871..100446150hg19UCSC Ensembl
Innerchr3:100335021..100446000hg19UCSC Ensembl
Outerchr3:100334721..100446300hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38111280
hg19111280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv917e214
Supporting Variantsessv11085840, essv11085836, essv11085828, essv11085833, essv11085849, essv11085830, essv11085829, essv11085831, essv11085835, essv11085842, essv11085832, essv11085827, essv11085838, essv11085845, essv11085839, essv11085848, essv11085837, essv11085841, essv11085843, essv11085846, essv11085834, essv11085847, essv11085850, essv11085844
SamplesHG01066, HG01531, HG01522, HG01140, HG01702, HG01676, HG04042, HG01492, HG00736, HG01761, HG01083, HG01110, HG02224, HG01121, HG01603, HG00368, HG01334, HG01679, HG00258, NA20801, NA20527, HG02239, NA19726, NA19758
Known GenesGPR128, TFG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597178
Frequency
Sample Size2504
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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