A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14090413



Internal ID4092229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35389260..35393421hg38UCSC Ensembl
Innerchr11:35389305..35393376hg38UCSC Ensembl
Outerchr11:35389215..35393466hg38UCSC Ensembl
chr11:35410807..35414968hg19UCSC Ensembl
Innerchr11:35410852..35414923hg19UCSC Ensembl
Outerchr11:35410762..35415013hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg384162
hg194162
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625932
Supporting Variants
SamplesHG01695
Known GenesSLC1A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14090413
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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