A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv257e199



Internal ID22758030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6704529..6716226hg38UCSC Ensembl
chr12:6813695..6825392hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3811698
hg1911698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656873, esv2662276
SamplesHG00626, HG00403, HG00610, HG00629, HG00583, HG00692, HG00625, HG00578, HG00421, HG00628
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv257e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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