A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673254



Internal ID9592673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247022929..247023819hg38UCSC Ensembl
chr1:247186231..247187121hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5650818, essv5502978, essv6411452, essv6369795, essv6147047, essv5954476, essv6132309, essv6575683, essv6097124, essv6316132, essv5893057, essv5975203, essv6531604, essv6358941, essv6312050, essv5693300, essv5834778, essv5606799, essv5887928, essv5872055, essv5531533, essv6291988, essv6443804, essv6272894
SamplesNA19321, NA19437, NA18501, NA20346, NA19920, NA19379, NA18507, NA19108, NA19239, NA19440, NA19313, NA19395, NA19172, NA19393, NA19347, NA19462, NA19394, NA19099, NA19452, NA19399, NA18853, NA19204, NA19466, NA18980
Known GenesZNF670-ZNF695
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673254
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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