A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673877



Internal ID9939982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67533569..67534341hg38UCSC Ensembl
chr12:67927349..67928121hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5783318, essv5484771, essv5503594, essv6552194, essv6445577
SamplesHG01188, HG00149, NA19675, HG00254, NA19679
Known GenesLOC100507175
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673877
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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