A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603717



Internal ID2206727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109106709..109108470hg38UCSC Ensembl
Innerchr12:109106765..109108415hg38UCSC Ensembl
Outerchr12:109106654..109108526hg38UCSC Ensembl
chr12:109544514..109546275hg19UCSC Ensembl
Innerchr12:109544570..109546220hg19UCSC Ensembl
Outerchr12:109544459..109546331hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630714
Supporting Variants
SamplesHG01986
Known GenesUNG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603717
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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