A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618477



Internal ID4620293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120084537..120088878hg38UCSC Ensembl
Innerchr12:120084537..120088878hg38UCSC Ensembl
Outerchr12:120084364..120089084hg38UCSC Ensembl
chr12:120522341..120526682hg19UCSC Ensembl
Innerchr12:120522341..120526682hg19UCSC Ensembl
Outerchr12:120522168..120526888hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630918
Supporting Variants
SamplesHG02642
Known GenesCCDC64
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618477
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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