A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4096475



Internal ID11318714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12522802..12522894hg38UCSC Ensembl
chr10:12564801..12564893hg19UCSC Ensembl
chr10:12604807..12604899hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1543093
Supporting Variants
SamplesHuRef
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4096475
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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