A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738567



Internal ID10322203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:75383104..75384265hg38UCSC Ensembl
Outerchr9:77998020..77999181hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760629, essv6967584, essv6923823, essv6771592, essv6935586, essv6755168, essv6716295, essv6915731, essv6737547, essv6752212, essv6815047, essv6757910, essv6939850, essv6856457, essv6740660, essv6905407, essv6970258, essv6958422, essv6831498, essv6778987, essv6919668, essv6802055, essv6819128, essv6791364, essv6935063, essv6734898, essv6912117, essv6734878, essv6976243, essv6775272
SamplesSSM059, SSM065, SSM087, SSM009, SSM050, SSM002, SSM057, SSM058, SSM028, SSM021, SSM018, SSM061, SSM029, SSM026, SSM017, SSM003, SSM067, SSM066, SSM007, SSM015, SSM078, SSM016, SSM077, SSM022, SSM010, SSM070, SSM004, SSM043, SSM052, SSM049
Known Genes
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)esv2738567
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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