A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4310333



Internal ID11246185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102311884..102312013hg38UCSC Ensembl
chr2:102928344..102928473hg19UCSC Ensembl
chr2:102294776..102294905hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38130
hg19130
hg18130
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1258097
Supporting Variants
SamplesHuRef
Known GenesIL1RL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4310333
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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