A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738960



Internal ID10322596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113900728..113901090hg38UCSC Ensembl
Outerchr9:116663008..116663370hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935639, essv6887680, essv6939900, essv6757940, essv6876346, essv6708487, essv6771637, essv6681189, essv6765518, essv6958502, essv6695820, essv6743717, essv6905708, essv6834519, essv6912162, essv6684733, essv6894280, essv6970311, essv6944431, essv6976318, essv6763115, essv6791407
SamplesSSM059, SSM065, SSM002, SSM023, SSM028, SSM092, SSM021, SSM029, SSM096, SSM062, SSM026, SSM001, SSM033, SSM006, SSM082, SSM015, SSM053, SSM022, SSM070, SSM034, SSM098, SSM063
Known GenesZNF618
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)esv2738960
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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