A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675852



Internal ID9941957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60022254..60022785hg38UCSC Ensembl
chr1:60487926..60488457hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5753042, essv6581244, essv6108884, essv5518486, essv5445300, essv6375466, essv6355949
SamplesNA19079, HG00629, HG00556, HG00525, NA18950, NA18615, NA18984
Known GenesC1orf87
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675852
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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