A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678912



Internal ID9945017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53779003..53781803hg38UCSC Ensembl
Outerchr1:53778846..53781956hg38UCSC Ensembl
Innerchr1:54244676..54247476hg19UCSC Ensembl
Outerchr1:54244519..54247629hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383111
hg193111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322615, essv5469445
SamplesNA19466, NA19332
Known GenesNDC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678912
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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