A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14031934



Internal ID4033750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12521903..12523631hg38UCSC Ensembl
Innerchr11:12521943..12523591hg38UCSC Ensembl
Outerchr11:12521863..12523671hg38UCSC Ensembl
chr11:12543450..12545178hg19UCSC Ensembl
Innerchr11:12543490..12545138hg19UCSC Ensembl
Outerchr11:12543410..12545218hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381729
hg191729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625398
Supporting Variants
SamplesHG01459
Known GenesPARVA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14031934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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