A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10628761



Internal ID630577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113233328..113804636hg38UCSC Ensembl
Innerchr2:113233478..113804486hg38UCSC Ensembl
Outerchr2:113233178..113804786hg38UCSC Ensembl
chr2:113990905..114562213hg19UCSC Ensembl
Innerchr2:113991055..114562063hg19UCSC Ensembl
Outerchr2:113990755..114562363hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38571309
hg19571309
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592016
Supporting Variants
SamplesHG03644
Known GenesCBWD2, DDX11L2, FAM138B, FOXD4L1, MIR4782, PAX8, PAX8-AS1, RABL2A, RPL23AP7, SLC35F5, WASH2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10628761
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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