A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13697241



Internal ID3699057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12554184..12554571hg38UCSC Ensembl
Innerchr10:12554185..12554571hg38UCSC Ensembl
Outerchr10:12554184..12554572hg38UCSC Ensembl
chr10:12596183..12596570hg19UCSC Ensembl
Innerchr10:12596184..12596570hg19UCSC Ensembl
Outerchr10:12596183..12596571hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622381
Supporting Variants
SamplesHG03476
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13697241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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