A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11879601



Internal ID5130103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40939038..41083954hg38UCSC Ensembl
chr5:40939140..41084056hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38144917
hg19144917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604832
Supporting Variants
SamplesNA18566
Known GenesC7, MROH2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11879601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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