A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5428264



Internal ID9366926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133552094..133588200hg38UCSC Ensembl
Outerchr9:133551523..133588770hg38UCSC Ensembl
Innerchr9:136417216..136453322hg19UCSC Ensembl
Outerchr9:136416645..136453892hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3837248
hg1937248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2656927
Supporting Variants
SamplesNA18560
Known GenesADAMTSL2, FAM163B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5428264
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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