A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11526654



Internal ID1528470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85783646..85786263hg38UCSC Ensembl
Innerchr4:85783646..85786263hg38UCSC Ensembl
Outerchr4:85783439..85786478hg38UCSC Ensembl
chr4:86704799..86707416hg19UCSC Ensembl
Innerchr4:86704799..86707416hg19UCSC Ensembl
Outerchr4:86704592..86707631hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382618
hg192618
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601249
Supporting Variants
SamplesNA12045
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11526654
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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