A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727747



Internal ID9962059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65498678..65499223hg38UCSC Ensembl
Outerchr4:66364396..66364941hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813897, essv6785905, essv6942799, essv6947342, essv6790022, essv6679960, essv6736591, essv6674976, essv6840796, essv6755920, essv6903278, essv6968838, essv6860195, essv6854470, essv6781737, essv6922609
SamplesSSM013, SSM033, SSM084, SSM088, SSM024, SSM050, SSM077, SSM005, SSM028, SSM069, SSM087, SSM023, SSM068, SSM008, SSM018, SSM070
Known GenesEPHA5
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)esv2727747
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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