A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739183



Internal ID9973524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133827235..133828418hg38UCSC Ensembl
Outerchr9:136692357..136693540hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1269e201
Supporting Variantsessv6845640, essv6831999, essv6691256, essv6743739, essv6900339, essv6948642, essv6681208, essv6850535, essv6677426, essv6697042, essv6691255, essv6912192, essv6684750, essv6830936, essv6827292, essv6787336, essv6727948, essv6965112, essv6771663, essv6819211, essv6870449, essv6838241, essv6831988, essv6727949, essv6734924, essv6731710, essv6727947, essv6771665, essv6720307, essv6890929, essv6856569, essv6815111, essv6931394, essv6695105, essv6827291, essv6842045, essv6895599, essv6861888, essv6935667, essv6681209, essv6724105, essv6677427, essv6791430, essv6876362, essv6884826, essv6965111, essv6894301, essv6783112, essv6894300, essv6876364, essv6720306, essv6927579, essv6915786, essv6939918, essv6791431, essv6915784, essv6862575, essv6716355, essv6894302, essv6870448, essv6775330, essv6856568, essv6970342, essv6838243, essv6823236, essv6795614, essv6850534, essv6834540, essv6912191, essv6834541, essv6830937, essv6968152, essv6712648, essv6775332, essv6862586, essv6944458, essv6935666, essv6905896, essv6948643, essv6763132, essv6952796, essv6866626, essv6763133, essv6905907, essv6687974, essv6702022, essv6842046, essv6970343, essv6731711, essv6752272, essv6965110
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM042, SSM088, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM062, SSM089, SSM019, SSM035, SSM032, SSM044, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM022, SSM010, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM098, SSM049, SSM012
Known GenesVAV2
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)esv2739183
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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