A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665423



Internal ID9931528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211791718..211792490hg38UCSC Ensembl
chr1:211965060..211965832hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5548022, essv6178028, essv5512532, essv5562764, essv5623813, essv6285574, essv6023636, essv5635006, essv6102444, essv6426372, essv6527764, essv6050637
SamplesNA20761, HG00257, HG00737, NA20756, HG01101, NA12827, HG01075, HG01148, NA20522, HG00136, HG00342, NA20758
Known GenesLPGAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665423
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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