A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14401397



Internal ID735339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19551310..19555162hg38UCSC Ensembl
Innerchr12:19551310..19555162hg38UCSC Ensembl
Outerchr12:19551173..19555342hg38UCSC Ensembl
chr12:19704244..19708096hg19UCSC Ensembl
Innerchr12:19704244..19708096hg19UCSC Ensembl
Outerchr12:19704107..19708276hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628764
Supporting Variants
SamplesHG00345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14401397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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