A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904557



Internal ID9669500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137780328..137781298hg38UCSC Ensembl
Outerchr9:140674780..140675750hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739467
Supporting Variants
SamplesSSM013
Known GenesEHMT1
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)essv6904557
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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