A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337526



Internal ID4339342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2837232..2842496hg38UCSC Ensembl
Innerchr12:2837382..2842346hg38UCSC Ensembl
Outerchr12:2837082..2842646hg38UCSC Ensembl
chr12:2946398..2951662hg19UCSC Ensembl
Innerchr12:2946548..2951512hg19UCSC Ensembl
Outerchr12:2946248..2951812hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385265
hg195265
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628323
Supporting Variants
SamplesHG03920
Known GenesLOC100507424
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337526
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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