A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667708



Internal ID9587127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10213932..10574778hg38UCSC Ensembl
Outerchr6:10213898..10574813hg38UCSC Ensembl
Innerchr6:10214165..10575011hg19UCSC Ensembl
Outerchr6:10214131..10575046hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38360916
hg19360916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5805290
SamplesNA18873
Known GenesGCNT2, LINC00518, MIR5689, TFAP2A, TFAP2A-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667708
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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