A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438237



Internal ID1550063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32556420..32559388hg38UCSC Ensembl
Innerchr12:32556465..32559343hg38UCSC Ensembl
Outerchr12:32556375..32559433hg38UCSC Ensembl
chr12:32709354..32712322hg19UCSC Ensembl
Innerchr12:32709399..32712277hg19UCSC Ensembl
Outerchr12:32709309..32712367hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382969
hg192969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629083
Supporting Variants
SamplesHG01435
Known GenesFGD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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