A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11352454



Internal ID1354270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9862076..9864330hg38UCSC Ensembl
Innerchr4:9862076..9864330hg38UCSC Ensembl
Outerchr4:9861808..9864668hg38UCSC Ensembl
chr4:9863700..9865954hg19UCSC Ensembl
Innerchr4:9863700..9865954hg19UCSC Ensembl
Outerchr4:9863432..9866292hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382255
hg192255
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599596
Supporting Variants
SamplesHG02645
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11352454
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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