A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625537



Internal ID7012371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19519799..19520649hg38UCSC Ensembl
Innerchr11:19519799..19520649hg38UCSC Ensembl
Outerchr11:19519531..19520955hg38UCSC Ensembl
chr11:19541346..19542196hg19UCSC Ensembl
Innerchr11:19541346..19542196hg19UCSC Ensembl
Outerchr11:19541078..19542502hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14046188, essv14046187
SamplesHG01060, NA19087
Known GenesNAV2, NAV2-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625537
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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