A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14597250



Internal ID4599066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104484244..104492812hg38UCSC Ensembl
Innerchr12:104484244..104492812hg38UCSC Ensembl
Outerchr12:104484093..104493028hg38UCSC Ensembl
chr12:104878022..104886590hg19UCSC Ensembl
Innerchr12:104878022..104886590hg19UCSC Ensembl
Outerchr12:104877871..104886806hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388569
hg198569
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630646
Supporting Variants
SamplesHG02522
Known GenesCHST11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14597250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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