A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695711



Internal ID697527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143737438..143749608hg38UCSC Ensembl
chr2:144495007..144507177hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3812171
hg1912171
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592756
Supporting Variants
SamplesNA12778
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695711
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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