A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4226192



Internal ID11508730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11637030..11637030hg38UCSC Ensembl
chr2:11777156..11777156hg19UCSC Ensembl
chr2:11694607..11694607hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1172824
Supporting Variants
SamplesHuRef
Known GenesGREB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4226192
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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