A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593336



Internal ID6980660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170470362..170479519hg38UCSC Ensembl
Innerchr2:170470391..170479491hg38UCSC Ensembl
Outerchr2:170470334..170479548hg38UCSC Ensembl
chr2:171326872..171336029hg19UCSC Ensembl
Innerchr2:171326901..171336001hg19UCSC Ensembl
Outerchr2:171326844..171336058hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389158
hg199158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10758059, essv10758050, essv10758052, essv10758049, essv10758054, essv10758051, essv10758057, essv10758056, essv10758053, essv10758058, essv10758055
SamplesNA21089, NA20846, HG02733, HG03947, NA20854, HG02728, HG04180, HG04155, NA20847, NA21102, NA21104
Known GenesMYO3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593336
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer