A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732868



Internal ID9967190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149964912..149965593hg38UCSC Ensembl
Outerchr6:150286048..150286729hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740080, essv6845052, essv6719550, essv6865718, essv6746032, essv6826887, essv6818373, essv6794768, essv6774679, essv6743260, essv6833873, essv6767627, essv6963901, essv6841359
SamplesSSM071, SSM027, SSM064, SSM084, SSM089, SSM044, SSM066, SSM085, SSM082, SSM078, SSM053, SSM010, SSM055, SSM052
Known GenesULBP1
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)esv2732868
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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