A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726759



Internal ID9961067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1095238..1096446hg38UCSC Ensembl
Outerchr4:1089026..1090234hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv802e201
Supporting Variantsessv6918169, essv6770237, essv6836851, essv6813793, essv6840668, essv6968715, essv6845042, essv6675906, essv6777614, essv6889627, essv6781620, essv6882831, essv6836850, essv6903183
SamplesSSM083, SSM065, SSM097, SSM013, SSM002, SSM028, SSM084, SSM017, SSM032, SSM067, SSM068, SSM077, SSM012
Known GenesRNF212
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)esv2726759
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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