A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440857



Internal ID4441695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56594216..56602491hg38UCSC Ensembl
Innerchr4:56594247..56602461hg38UCSC Ensembl
Outerchr4:56594186..56602522hg38UCSC Ensembl
chr4:57460382..57468657hg19UCSC Ensembl
Innerchr4:57460413..57468627hg19UCSC Ensembl
Outerchr4:57460352..57468688hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg388276
hg198276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600579
Supporting Variants
SamplesHG03950
Known GenesTHEGL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440857
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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