A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14179714



Internal ID4181530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62493573..62494981hg38UCSC Ensembl
Innerchr11:62493580..62494975hg38UCSC Ensembl
Outerchr11:62493567..62494988hg38UCSC Ensembl
chr11:62261045..62262453hg19UCSC Ensembl
Innerchr11:62261052..62262447hg19UCSC Ensembl
Outerchr11:62261039..62262460hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626609
Supporting Variants
SamplesNA19102
Known GenesAHNAK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14179714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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