A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741029



Internal ID10295145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112439689..112440553hg38UCSC Ensembl
Outerchr10:114199447..114200311hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787502, essv6845751, essv6944634, essv6685621, essv6740842, essv6831066, essv6731861, essv6677570, essv6691385, essv6709289, essv6684867, essv6935850, essv6912332, essv6876463, essv6746634, essv6779205, essv6681346, essv6940053, essv6842190, essv6760772, essv6819404, essv6791580, essv6873492, essv6884915, essv6969274, essv6919890, essv6952945, essv6775467, essv6743845, essv6695280, essv6815233, essv6850770, essv6896920, essv6728079, essv6897461, essv6862077, essv6771809, essv6765623, essv6749489, essv6716525, essv6769564, essv6705931, essv6931556, essv6823379, essv6705985, essv6736454, essv6924073
SamplesSSM036, SSM008, SSM046, SSM079, SSM065, SSM088, SSM041, SSM023, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM017, SSM032, SSM067, SSM001, SSM086, SSM033, SSM066, SSM085, SSM081, SSM040, SSM020, SSM007, SSM015, SSM078, SSM053, SSM005, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM056, SSM063, SSM012
Known GenesZDHHC6
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)esv2741029
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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