A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748028



Internal ID10328998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110496273..110497383hg38UCSC Ensembl
Outerchr13:111148620..111149730hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712443, essv6747005, essv6945182, essv6741277, essv6909097, essv6763516, essv6685279, essv6735335
SamplesSSM023, SSM062, SSM014, SSM006, SSM055, SSM034, SSM052, SSM049
Known GenesCOL4A2
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)esv2748028
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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