A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678076



Internal ID9597495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6378109..6385835hg38UCSC Ensembl
chr1:6438169..6445895hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg387727
hg197727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5574356, essv5499015, essv6083095, essv6110969, essv5814488, essv6038179, essv6180877, essv6270116, essv5746308, essv5579207, essv5712074, essv5621209, essv6323711
SamplesNA12342, NA12044, NA19914, HG01140, NA20504, HG00159, NA12046, HG00325, HG00176, NA18558, HG00246, HG00138, HG00345
Known GenesACOT7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678076
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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