A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958544



Internal ID9720375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132727518..134591184hg38UCSC Ensembl
Outerchr9:135602905..137483030hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381863667
hg191880126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739138
Supporting Variants
SamplesSSM026
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)essv6958544
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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