A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14031932



Internal ID4033748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12455535..12456714hg38UCSC Ensembl
Innerchr11:12455542..12456708hg38UCSC Ensembl
Outerchr11:12455529..12456721hg38UCSC Ensembl
chr11:12477082..12478261hg19UCSC Ensembl
Innerchr11:12477089..12478255hg19UCSC Ensembl
Outerchr11:12477076..12478268hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381180
hg191180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625396
Supporting Variants
SamplesHG02573
Known GenesPARVA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14031932
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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