A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647909



Internal ID7034648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44815345..44815920hg38UCSC Ensembl
Innerchr22:44815345..44815920hg38UCSC Ensembl
Outerchr22:44815075..44816198hg38UCSC Ensembl
chr22:45211225..45211800hg19UCSC Ensembl
Innerchr22:45211225..45211800hg19UCSC Ensembl
Outerchr22:45210955..45212078hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16438554, essv16438552, essv16438546, essv16438555, essv16438553, essv16438549, essv16438548, essv16438550, essv16438547, essv16438551
SamplesHG02318, NA18486, HG02888, HG01924, HG02588, NA19159, HG02979, HG02896, NA19390, NA19711
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647909
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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