A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6306753



Internal ID9284156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1328824..1329444hg38UCSC Ensembl
chr12:1437990..1438610hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2670650
Supporting Variants
SamplesHG01197
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6306753
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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