A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14624273



Internal ID2921734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125060216..125064566hg38UCSC Ensembl
Innerchr12:125060241..125064542hg38UCSC Ensembl
Outerchr12:125060192..125064591hg38UCSC Ensembl
chr12:125544762..125549112hg19UCSC Ensembl
Innerchr12:125544787..125549088hg19UCSC Ensembl
Outerchr12:125544738..125549137hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384351
hg194351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631035
Supporting Variants
SamplesHG02585
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14624273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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