A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733224



Internal ID9967547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167203951..167318561hg38UCSC Ensembl
Outerchr6:167617439..167732049hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38114611
hg19114611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1034e201
Supporting Variantsessv6734459, essv6963960, essv6896869, essv6805555, essv6861034, essv6884345, essv6799012, essv6903848, essv6767649, essv6923210, essv6957248, essv6671344, essv6698025, essv6963956, essv6872884, essv6786528, essv6975041, essv6808544, essv6778333, essv6963959, essv6805553, essv6837570, essv6694313, essv6855433, essv6861032, essv6687377, essv6740122, essv6907735, essv6727254, essv6715674, essv6729909, essv6907734, essv6896870, essv6827131, essv6676716, essv6881532, essv6818411, essv6676714, essv6975038, essv6855436, essv6698024, essv6684116, essv6872885, essv6845081, essv6822575, essv6934875, essv6869884, essv6790652, essv6865757, essv6875854, essv6923209, essv6698026, essv6751717, essv6719578, essv6796821, essv6767648, essv6889177, essv6715672, essv6830314, essv6903850, essv6889166, essv6830313, essv6760160, essv6861033, essv6962551, essv6869885, essv6903849, essv6855434, essv6774712, essv6887123, essv6794797, essv6963958, essv6957246, essv6963957, essv6811429, essv6805552
SamplesSSM083, SSM071, SSM027, SSM075, SSM046, SSM064, SSM079, SSM087, SSM038, SSM013, SSM009, SSM074, SSM088, SSM057, SSM092, SSM090, SSM021, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM066, SSM085, SSM081, SSM072, SSM007, SSM078, SSM037, SSM076, SSM010, SSM091, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM012
Known GenesUNC93A
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)esv2733224
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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