A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6436638



Internal ID9287822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21358127..21417733hg38UCSC Ensembl
Outerchr22:21357756..21418103hg38UCSC Ensembl
Innerchr22:21712416..21772022hg19UCSC Ensembl
Outerchr22:21712045..21772392hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3860348
hg1960348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661723
Supporting Variants
SamplesNA12776
Known GenesHIC2, RIMBP3B, RIMBP3C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6436638
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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