A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10569007



Internal ID825325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86711268..86725576hg38UCSC Ensembl
Innerchr2:86711268..86725576hg38UCSC Ensembl
Outerchr2:86710768..86726076hg38UCSC Ensembl
chr2:86938391..86952699hg19UCSC Ensembl
Innerchr2:86938391..86952699hg19UCSC Ensembl
Outerchr2:86937891..86953199hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3814309
hg1914309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591556
Supporting Variants
SamplesHG00409
Known GenesRMND5A, RNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10569007
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