A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734468



Internal ID9968795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56668026..57141035hg38UCSC Ensembl
Outerchr7:56735719..57208742hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38473010
hg19473024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818529, essv6930884, essv6884423, essv6857098, essv6782470, essv6927046, essv6849532, essv6786678, essv6857109, essv6740227, essv6805649, essv6719674, essv6799128, essv6923320, essv6948075, essv6698085, essv6814564, essv6712092, essv6865890, essv6671516, essv6915275, essv6723497, essv6861178, essv6869970, essv6893759, essv6869971, essv6957458, essv6680637, essv6818528, essv6869972, essv6774817, essv6737164, essv6899900, essv6786679, essv6698084, essv6907832, essv6802761, essv6799129, essv6802760, essv6849533, essv6671517, essv6855625, essv6782469, essv6919123, essv6751804, essv6808623, essv6705268, essv6930873, essv6872963, essv6890066, essv6830408, essv6767748, essv6715785, essv6930725, essv6794926, essv6680654, essv6890415, essv6837688, essv6719676, essv6849530, essv6767747, essv6827832, essv6963472, essv6684228, essv6857120, essv6939293, essv6708655, essv6762787, essv6687463, essv6778462, essv6884424, essv6975260, essv6969658, essv6727368, essv6727367, essv6975263, essv6861177
SamplesSSM100, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM087, SSM038, SSM097, SSM073, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM028, SSM090, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM078, SSM016, SSM005, SSM077, SSM022, SSM010, SSM091, SSM095, SSM034, SSM004, SSM043, SSM052, SSM098, SSM012
Known GenesLOC100130849, MIR4283-1, MIR4283-2, ZNF479
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)esv2734468
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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