A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293227



Internal ID4295043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119000685..119001245hg38UCSC Ensembl
Innerchr11:119000706..119001224hg38UCSC Ensembl
Outerchr11:119000664..119001266hg38UCSC Ensembl
chr11:118871395..118871955hg19UCSC Ensembl
Innerchr11:118871416..118871934hg19UCSC Ensembl
Outerchr11:118871374..118871976hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627880
Supporting Variants
SamplesNA21093
Known GenesCCDC84
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293227
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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