A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527215



Internal ID1529031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87264597..87307281hg38UCSC Ensembl
Innerchr4:87264611..87307267hg38UCSC Ensembl
Outerchr4:87264583..87307295hg38UCSC Ensembl
chr4:88185749..88228433hg19UCSC Ensembl
Innerchr4:88185763..88228419hg19UCSC Ensembl
Outerchr4:88185735..88228447hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842685
hg1942685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601269
Supporting Variants
SamplesNA19315
Known GenesHSD17B13, MIR5705
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527215
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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