A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647907



Internal ID7034646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44777817..44784157hg38UCSC Ensembl
Innerchr22:44777817..44784157hg38UCSC Ensembl
Outerchr22:44777613..44784376hg38UCSC Ensembl
chr22:45173697..45180037hg19UCSC Ensembl
Innerchr22:45173697..45180037hg19UCSC Ensembl
Outerchr22:45173493..45180256hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg386341
hg196341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16438540, essv16438538, essv16438539
SamplesHG04070, HG03743, HG03863
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647907
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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