A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6373121



Internal ID9350524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180714616..180716300hg38UCSC Ensembl
chr1:180683752..180685436hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381685
hg191685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673886
Supporting Variants
SamplesNA19473
Known GenesXPR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6373121
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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