A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741317



Internal ID10295433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:117125977..117127107hg38UCSC Ensembl
Outerchr10:118885488..118886618hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735019, essv6740846, essv6763228, essv6952948, essv6850777, essv6976681, essv6672746, essv6819406, essv6856796, essv6833110, essv6831069, essv6803754, essv6862079, essv6716528, essv6845753, essv6706153, essv6904672, essv6838371, essv6749492, essv6737706, essv6758048, essv6919896, essv6866816, essv6768307, essv6769598, essv6681350, essv6873496, essv6724238, essv6912337, essv6940056, essv6743846, essv6760774, essv6755347, essv6936907, essv6765625, essv6752393, essv6935855, essv6842196, essv6791584, essv6771813, essv6908611, essv6746638
SamplesSSM059, SSM008, SSM083, SSM045, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM088, SSM057, SSM058, SSM084, SSM021, SSM061, SSM029, SSM062, SSM089, SSM017, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM085, SSM081, SSM015, SSM078, SSM053, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM043, SSM052, SSM049, SSM056, SSM063
Known GenesKIAA1598
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)esv2741317
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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