A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733576



Internal ID10317212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170168903..170171427hg38UCSC Ensembl
Outerchr6:170484127..170486651hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382525
hg192525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1055e201
Supporting Variantsessv6712003, essv6969555, essv6964014, essv6723404, essv6671384, essv6899825, essv6808560, essv6794834, essv6694355, essv6934915, essv6727281, essv6845099, essv6943625, essv6705189, essv6939200, essv6723405, essv6865784, essv6881550, essv6975096, essv6934914, essv6919016, essv6907749, essv6893675, essv6930626, essv6833935, essv6676745, essv6849384, essv6975094, essv6782383, essv6687396, essv6799039, essv6727280, essv6786578, essv6794835
SamplesSSM100, SSM071, SSM027, SSM075, SSM045, SSM046, SSM042, SSM023, SSM028, SSM021, SSM069, SSM029, SSM089, SSM017, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM037, SSM022, SSM098
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)esv2733576
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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