A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728054



Internal ID9962366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101790996..101791700hg38UCSC Ensembl
Outerchr4:102712153..102712857hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756331, essv6956238, essv6726702, essv6725198
SamplesSSM008, SSM046, SSM026, SSM007
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)esv2728054
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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