A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14597256



Internal ID4599072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104721010..104723729hg38UCSC Ensembl
Innerchr12:104721026..104723714hg38UCSC Ensembl
Outerchr12:104720995..104723745hg38UCSC Ensembl
chr12:105114788..105117507hg19UCSC Ensembl
Innerchr12:105114804..105117492hg19UCSC Ensembl
Outerchr12:105114773..105117523hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382720
hg192720
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630649
Supporting Variants
SamplesHG03428
Known GenesCHST11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14597256
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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