A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14220607



Internal ID6605461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84864520..84914669hg38UCSC Ensembl
Innerchr11:84864520..84914669hg38UCSC Ensembl
Outerchr11:84864020..84915169hg38UCSC Ensembl
chr11:84575564..84625713hg19UCSC Ensembl
Innerchr11:84575564..84625713hg19UCSC Ensembl
Outerchr11:84575064..84626213hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3850150
hg1950150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627054
Supporting Variants
SamplesNA20773
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14220607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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