A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727704



Internal ID9962015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61633208..61633927hg38UCSC Ensembl
Outerchr4:62498926..62499645hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759643, essv6700676, essv6764692, essv6791232, essv6917373, essv6748367, essv6973866, essv6742738, essv6679956, essv6951417, essv6754127, essv6883742, essv6751210, essv6914681, essv6734024, essv6934177, essv6739513, essv6762323, essv6850820, essv6817549, essv6724854, essv6875316, essv6736583
SamplesSSM007, SSM092, SSM053, SSM006, SSM033, SSM061, SSM078, SSM025, SSM016, SSM057, SSM001, SSM050, SSM062, SSM012, SSM056, SSM009, SSM029, SSM021, SSM002, SSM063, SSM052, SSM049, SSM058
Known GenesLPHN3
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)esv2727704
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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