A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739318



Internal ID10322954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136023886..136024514hg38UCSC Ensembl
Outerchr9:138915732..138916360hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771676, essv6944470, essv6695116, essv6904547, essv6795628, essv6862631, essv6672513, essv6731722, essv6952811, essv6842059, essv6931410, essv6791444
SamplesSSM071, SSM011, SSM065, SSM013, SSM023, SSM084, SSM047, SSM031, SSM020, SSM037, SSM070, SSM025
Known GenesNACC2
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)esv2739318
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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