A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4050049



Internal ID11711825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238296623..238296704hg38UCSC Ensembl
chr2:239205264..239205345hg19UCSC Ensembl
chr2:238870003..238870084hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1349228
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4050049
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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