A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676627



Internal ID9596046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180780632..180786257hg38UCSC Ensembl
chr1:180749768..180755393hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385626
hg195626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6559013, essv6361828, essv6134062, essv6099030, essv5823407, essv5700224, essv5396233, essv5820016, essv6269364
SamplesHG01173, NA12286, NA19704, NA12891, HG01083, NA12156, HG00262, NA20535, NA12878
Known GenesXPR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676627
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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