A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647906



Internal ID7034645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44748120..44771897hg38UCSC Ensembl
Innerchr22:44748620..44771397hg38UCSC Ensembl
Outerchr22:44747120..44772897hg38UCSC Ensembl
chr22:45144000..45167777hg19UCSC Ensembl
Innerchr22:45144500..45167277hg19UCSC Ensembl
Outerchr22:45143000..45168777hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3823778
hg1923778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16438537
SamplesHG00232
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647906
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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