A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527226



Internal ID3644412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87313500..87333321hg38UCSC Ensembl
Innerchr4:87313500..87333321hg38UCSC Ensembl
Outerchr4:87313000..87333821hg38UCSC Ensembl
chr4:88234652..88254473hg19UCSC Ensembl
Innerchr4:88234652..88254473hg19UCSC Ensembl
Outerchr4:88234152..88254973hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3819822
hg1919822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601272
Supporting Variants
SamplesHG03240
Known GenesHSD17B13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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