A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3938516



Internal ID11476670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178832345..178833086hg38UCSC Ensembl
chr3:178550133..178550874hg19UCSC Ensembl
chr3:180032827..180033568hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1066766
Supporting Variants
SamplesHuRef
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3938516
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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