A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718218



Internal ID9952509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621546..14623341hg38UCSC Ensembl
Outerchr19:14732358..14734153hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761647, essv6666444, essv6863573, essv6776654, essv6779932, essv6917090, essv6874418, essv6729302, essv6781166, essv6801291, essv6954329
SamplesSSM008, SSM046, SSM088, SSM061, SSM001, SSM066, SSM072, SSM016, SSM091, SSM025, SSM004
Known GenesEMR3
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)esv2718218
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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