A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622373



Internal ID6662543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12454812..12458338hg38UCSC Ensembl
Innerchr10:12454812..12458338hg38UCSC Ensembl
Outerchr10:12454637..12458486hg38UCSC Ensembl
chr10:12496811..12500337hg19UCSC Ensembl
Innerchr10:12496811..12500337hg19UCSC Ensembl
Outerchr10:12496636..12500485hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383527
hg193527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696587
SamplesHG00337
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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