A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14437025



Internal ID4438841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32177452..32182992hg38UCSC Ensembl
Innerchr12:32177952..32182492hg38UCSC Ensembl
Outerchr12:32176452..32183992hg38UCSC Ensembl
chr12:32330386..32335926hg19UCSC Ensembl
Innerchr12:32330886..32335426hg19UCSC Ensembl
Outerchr12:32329386..32336926hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385541
hg195541
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629067
Supporting Variants
SamplesNA12874
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14437025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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