A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738451



Internal ID9972791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:76495761..76501292hg38UCSC Ensembl
Outerchr10:78255519..78261050hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg385532
hg195532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912302, essv6894401, essv6856745, essv6915880, essv6891014, essv6815202, essv6799907, essv6705950, essv6908577, essv6755315, essv6672693, essv6845719, essv6879289, essv6924031, essv6831030, essv6775440, essv6827403, essv6968973, essv6677537, essv6783259, essv6862032, essv6850726, essv6809160, essv6684836, essv6884892, essv6728050, essv6769242, essv6832809, essv6952916, essv6740813, essv6948769, essv6765597, essv6900416, essv6736165, essv6823342, essv6897433, essv6838341, essv6734994, essv6698550, essv6681317, essv6935812, essv6834636, essv6702145, essv6819358, essv6716494, essv6743810, essv6906695, essv6812007, essv6695244, essv6940022, essv6936518, essv6760744, essv6703598, essv6803276, essv6944587, essv6752357, essv6685377, essv6763205, essv6919853
SamplesSSM100, SSM008, SSM083, SSM024, SSM075, SSM046, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM088, SSM002, SSM057, SSM023, SSM058, SSM021, SSM018, SSM061, SSM062, SSM017, SSM032, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM063
Known GenesC10orf11
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)esv2738451
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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