A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3891713



Internal ID11523472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12554210..12554592hg38UCSC Ensembl
chr10:12596209..12596591hg19UCSC Ensembl
chr10:12636215..12636597hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38383
hg19383
hg18383
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1080827
Supporting Variants
SamplesHuRef
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3891713
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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