A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732870



Internal ID9967192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149981303..149981811hg38UCSC Ensembl
Outerchr6:150302439..150302947hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837538, essv6943550, essv6934845, essv6743261, essv6701201, essv6818374, essv6845053, essv6727223, essv6826898, essv6841360, essv6762718, essv6962228, essv6872860, essv6723334, essv6939123, essv6729732, essv6715639, essv6952011, essv6822538, essv6962817, essv6770921, essv6898042, essv6929662, essv6911451, essv6705138
SamplesSSM083, SSM045, SSM046, SSM079, SSM065, SSM039, SSM002, SSM023, SSM084, SSM021, SSM062, SSM003, SSM001, SSM085, SSM040, SSM007, SSM015, SSM078, SSM053, SSM022, SSM010, SSM091, SSM025, SSM004, SSM043
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)esv2732870
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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