A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956238



Internal ID9718300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101791183..101791238hg38UCSC Ensembl
Outerchr4:102712340..102712395hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728055, esv2728054
Supporting Variants
SamplesSSM026
Known GenesBANK1
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)essv6956238
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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