A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727954



Internal ID9962266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88760243..88760628hg38UCSC Ensembl
Outerchr4:89681394..89681779hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670355, essv6813923, essv6790050, essv6886634, essv6899313, essv6798374, essv6889769, essv6785941, essv6794203, essv6848382, essv6817602, essv6929998, essv6715072, essv6718953, essv6881073, essv6962922, essv6683579, essv6679989
SamplesSSM027, SSM086, SSM033, SSM078, SSM043, SSM031, SSM072, SSM020, SSM071, SSM094, SSM097, SSM077, SSM100, SSM069, SSM034, SSM096, SSM044, SSM070
Known GenesFAM13A
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)esv2727954
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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