A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3622521



Internal ID12139347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130940611..130940611hg38UCSC Ensembl
chr2:131698184..131698184hg19UCSC Ensembl
chr2:131414654..131414654hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1708111
Supporting Variants
SamplesHuRef
Known GenesARHGEF4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3622521
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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