A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12092667



Internal ID5312420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148364328..148370577hg38UCSC Ensembl
chr5:147743891..147750140hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386250
hg196250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607112
Supporting Variants
SamplesNA18861
Known GenesLOC102546294
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12092667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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