A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14583635



Internal ID3214421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97701293..97714274hg38UCSC Ensembl
Innerchr12:97701326..97714242hg38UCSC Ensembl
Outerchr12:97701261..97714307hg38UCSC Ensembl
chr12:98095071..98108052hg19UCSC Ensembl
Innerchr12:98095104..98108020hg19UCSC Ensembl
Outerchr12:98095039..98108085hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3812982
hg1912982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630482
Supporting Variants
SamplesHG02817
Known GenesLOC643711
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14583635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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