A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809175



Internal ID9863977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97275124..97277625hg38UCSC Ensembl
Outerchr10:99034881..99037382hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739862
Supporting Variants
SamplesSSM075
Known GenesARHGAP19, ARHGAP19-SLIT1
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)essv6809175
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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