A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591529



Internal ID6978857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85252336..85252992hg38UCSC Ensembl
Innerchr2:85252362..85252966hg38UCSC Ensembl
Outerchr2:85252310..85253018hg38UCSC Ensembl
chr2:85479459..85480115hg19UCSC Ensembl
Innerchr2:85479485..85480089hg19UCSC Ensembl
Outerchr2:85479433..85480141hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568708, essv10568709
SamplesHG02420, HG03575
Known GenesTCF7L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591529
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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