A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732903



Internal ID10316539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151512471..151512948hg38UCSC Ensembl
Outerchr6:151833606..151834083hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861006, essv6694274, essv6754649, essv6770922, essv6849304, essv6786501, essv6748841, essv6957192, essv6833879, essv6926911, essv6727225, essv6974980, essv6939126, essv6676684, essv6947911, essv6698007, essv6888877, essv6943555, essv6690575, essv6711942, essv6743264
SamplesSSM036, SSM024, SSM046, SSM065, SSM038, SSM042, SSM088, SSM023, SSM058, SSM069, SSM029, SSM026, SSM019, SSM032, SSM086, SSM082, SSM053, SSM037, SSM022, SSM056, SSM012
Known GenesCCDC170
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)esv2732903
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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