A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3856509



Internal ID11558676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225018488..225018621hg38UCSC Ensembl
chr2:225883205..225883338hg19UCSC Ensembl
chr2:225591449..225591582hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38134
hg19134
hg18134
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1631002
Supporting Variants
SamplesHuRef
Known GenesDOCK10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3856509
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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