A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733172



Internal ID10316808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166221770..166222140hg38UCSC Ensembl
Outerchr6:166635258..166635628hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975024, essv6770942, essv6896867, essv6957238, essv6930585, essv6907731, essv6701242, essv6837567, essv6679844
SamplesSSM083, SSM065, SSM039, SSM029, SSM026, SSM014, SSM020, SSM005, SSM099
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2733172
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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