A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669464



Internal ID9935569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:75389600..75397056hg38UCSC Ensembl
Outerchr9:75389229..75397426hg38UCSC Ensembl
Innerchr9:78004516..78011972hg19UCSC Ensembl
Outerchr9:78004145..78012342hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg388198
hg198198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1352e199
Supporting Variantsessv5487795, essv5948396, essv5963356, essv5512990, essv6535236, essv5793592, essv6053632, essv6170255, essv5924184, essv6126934, essv6373687, essv6130743, essv5816749, essv5682169
SamplesHG00100, HG00151, HG00233, HG00261, HG00158, HG00236, HG00262, HG00253, HG00250, HG01334, HG00246, HG00258, HG00136, HG00237
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669464
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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