A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10563443



Internal ID4723635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:83009585..83196262hg38UCSC Ensembl
Innerchr2:83009585..83196262hg38UCSC Ensembl
Outerchr2:83009085..83196762hg38UCSC Ensembl
chr2:83236709..83423386hg19UCSC Ensembl
Innerchr2:83236709..83423386hg19UCSC Ensembl
Outerchr2:83236209..83423886hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38186678
hg19186678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591485
Supporting Variants
SamplesNA06985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10563443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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