A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677135



Internal ID9943240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94663455..94689478hg38UCSC Ensembl
Outerchr1:94663418..94689528hg38UCSC Ensembl
Innerchr1:95129011..95155034hg19UCSC Ensembl
Outerchr1:95128974..95155084hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3826111
hg1926111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042593, essv5730595, essv6498370
SamplesNA18908, NA19390, NA19398
Known GenesLINC01057
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677135
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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