A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676122



Internal ID9595541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85783748..85786154hg38UCSC Ensembl
Outerchr4:85783591..85786307hg38UCSC Ensembl
Innerchr4:86704901..86707307hg19UCSC Ensembl
Outerchr4:86704744..86707460hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382717
hg192717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5778652, essv5974227, essv6254702
SamplesNA12763, NA11933, NA12045
Known GenesARHGAP24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676122
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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