A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14437002



Internal ID4438818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32134109..32141225hg38UCSC Ensembl
Innerchr12:32134109..32141225hg38UCSC Ensembl
Outerchr12:32133609..32141725hg38UCSC Ensembl
chr12:32287043..32294159hg19UCSC Ensembl
Innerchr12:32287043..32294159hg19UCSC Ensembl
Outerchr12:32286543..32294659hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387117
hg197117
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629065
Supporting Variants
SamplesHG01815
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14437002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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