A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667587



Internal ID9933692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246652751..246920518hg38UCSC Ensembl
chr1:246816053..247083820hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38267768
hg19267768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5545614, essv5952982, essv5669371, essv5573339, essv6559523, essv5407538, essv5651781, essv6423317
SamplesHG00315, HG01070, HG00448, HG00253, NA18539, HG00428, NA18534, HG00437
Known GenesAHCTF1, CNST, LOC149134, SCCPDH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667587
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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