A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11591348



Internal ID1312855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123037781..123082215hg38UCSC Ensembl
Innerchr4:123037788..123082208hg38UCSC Ensembl
Outerchr4:123037774..123082222hg38UCSC Ensembl
chr4:123958936..124003370hg19UCSC Ensembl
Innerchr4:123958943..124003363hg19UCSC Ensembl
Outerchr4:123958929..124003377hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3844435
hg1944435
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602039
Supporting Variants
SamplesHG01161
Known GenesSPATA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11591348
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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