A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976374



Internal ID9735048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132727715..134590862hg38UCSC Ensembl
Outerchr9:135603102..137482708hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381863148
hg191879607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739138
Supporting Variants
SamplesSSM029
Known GenesABO, ADAMTS13, ADAMTSL2, AK8, BRD3, C9orf9, C9orf96, CACFD1, CEL, CELP, DBH, DBH-AS1, FAM163B, GBGT1, GFI1B, GTF3C5, LINC00094, MED22, MIR4669, MIR6877, OBP2B, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SLC2A6, SNORD24, SNORD36A, SNORD36B, SNORD36C, SURF1, SURF2, SURF4, SURF6, TMEM8C, TSC1, VAV2, WDR5
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)essv6976374
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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