A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738948



Internal ID9973289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112502367..112502455hg38UCSC Ensembl
Outerchr9:115264647..115264735hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672455, essv6866597, essv6958500, essv6850508, essv6861861, essv6856524
SamplesSSM087, SSM088, SSM026, SSM089, SSM031, SSM086
Known GenesKIAA1958
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)esv2738948
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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