A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733202



Internal ID10316838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166858448..166859228hg38UCSC Ensembl
Outerchr6:167271936..167272716hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715668, essv6849346, essv6962529, essv6952042, essv6830310, essv6822572, essv6740116, essv6872882, essv6799008, essv6705159, essv6963950, essv6923205, essv6680520, essv6918975, essv6855430, essv6926933, essv6770947, essv6796809, essv6943591, essv6754672, essv6778329, essv6911478, essv6833901, essv6934870, essv6845079, essv6939165, essv6790648, essv6731004, essv6767644, essv6762142, essv6975031, essv6903843, essv6826549, essv6929951, essv6794794, essv6947942, essv6667643, essv6723368, essv6786526, essv6889143, essv6841386, essv6774707, essv6727251, essv6969514
SamplesSSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM013, SSM009, SSM023, SSM058, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM017, SSM019, SSM003, SSM067, SSM086, SSM033, SSM066, SSM085, SSM081, SSM040, SSM072, SSM082, SSM015, SSM080, SSM022, SSM091, SSM070, SSM025, SSM004, SSM043, SSM052, SSM030, SSM012
Known GenesRPS6KA2
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)esv2733202
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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