A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11373390



Internal ID1166376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25615635..25620077hg38UCSC Ensembl
Innerchr4:25615652..25620061hg38UCSC Ensembl
Outerchr4:25615619..25620094hg38UCSC Ensembl
chr4:25617257..25621699hg19UCSC Ensembl
Innerchr4:25617274..25621683hg19UCSC Ensembl
Outerchr4:25617241..25621716hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384443
hg194443
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599971
Supporting Variants
SamplesHG01049
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11373390
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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