A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668154



Internal ID9934259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227654768..227655356hg38UCSC Ensembl
chr1:227842469..227843057hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38589
hg19589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5757067, essv6338767, essv5508643, essv5786019, essv6497742, essv6355063, essv5550575, essv6053192, essv5592784, essv6260004, essv6133489, essv5509149, essv6246555, essv5549341, essv6397423, essv6499881, essv6586243
SamplesHG01060, HG00524, NA18596, HG00589, HG00736, NA18617, NA19002, HG00464, HG01183, NA18613, HG00701, HG01073, NA18634, NA18543, NA18564, HG01342, HG00437
Known GenesZNF678
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668154
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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