A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672210



Internal ID9591629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134837722..134838701hg38UCSC Ensembl
chr2:135595292..135596271hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5946184
SamplesHG01083
Known GenesACMSD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672210
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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